Variant report

Variant	rs544836673
Chromosome Location	chr1:161475873-161475874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161475098-161475880	K562	blood:	n/a	n/a
2	HEY1	chr1:161475662-161475920	K562	blood:	n/a	n/a
3	BHLHE40	chr1:161475741-161477019	K562	blood:	n/a	n/a
4	TEAD4	chr1:161474806-161475974	K562	blood:	n/a	n/a
5	NR2F2	chr1:161474710-161477011	K562	blood:	n/a	n/a
6	POLR2A	chr1:161474880-161476751	K562	blood:	n/a	n/a
7	POLR2A	chr1:161475585-161475947	K562	blood:	n/a	n/a
8	ZMIZ1	chr1:161475848-161476095	K562	blood:	n/a	n/a
9	POLR2A	chr1:161474929-161476599	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161475869-161475919	HRE	kidney:	n/a
2	chr1:161475869-161475919	PANC-1	pancreas:	n/a
3	chr1:161475869-161475919	NHBE	bronchial:	n/a
4	chr1:161475869-161475919	NH-A	brain:	n/a
5	chr1:161475869-161475919	PrEC	prostate:	n/a
6	chr1:161475869-161475919	AoSMC	blood vessel:	n/a
7	chr1:161475869-161475919	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:161475869-161475919	HRPEpiC	eye:	n/a
9	chr1:161475869-161475919	GM12892	blood:	n/a
10	chr1:161475869-161475919	HNPCEpiC	eye:	n/a
11	chr1:161475869-161475919	NHDF-neo	bronchial:	n/a
12	chr1:161475869-161475919	U87	brain:	n/a
13	chr1:161475869-161475919	T-47D	breast:	n/a
14	chr1:161475869-161475919	HMEC	breast:	n/a
15	chr1:161475869-161475919	ovcar-3	ovarian:	n/a
16	chr1:161475869-161475919	SK-N-SH_RA	brain:	n/a
17	chr1:161475869-161475919	SKMC	muscle:	n/a
18	chr1:161475869-161475919	HUVEC	blood vessel:	n/a
19	chr1:161475869-161475919	Jurkat	blood:	n/a
20	chr1:161475869-161475919	HRCEpiC	kidney:	n/a
21	chr1:161475869-161475919	Caco-2	colon:	n/a
22	chr1:161475869-161475919	BJ	skin:	n/a
23	chr1:161475869-161475919	HCF	heart:	n/a
24	chr1:161475869-161475919	HCPEpiC	choroid plexus:	n/a
25	chr1:161475869-161475919	GM06990	blood:	n/a
26	chr1:161475869-161475919	ProgFib	skin:	n/a
27	chr1:161475869-161475919	GM19239	blood:	n/a
28	chr1:161475869-161475919	Hepatocyte	liver:	n/a
29	chr1:161475869-161475919	MCF-7	breast:	n/a
30	chr1:161475869-161475919	AG09309	skin:	n/a
31	chr1:161475869-161475919	HCT-116	colon:	n/a
32	chr1:161475869-161475919	HAEpiC	amniotic membrane:	n/a
33	chr1:161475869-161475919	SK-N-MC	brain:	n/a
34	chr1:161475869-161475919	A549	lung:	n/a
35	chr1:161475869-161475919	HepG2	liver:	n/a
36	chr1:161475869-161475919	RPTEC	kidney:	n/a
37	chr1:161475869-161475919	GM12878	blood:	n/a
38	chr1:161475869-161475919	K562	blood:	n/a
39	chr1:161475869-161475919	HCM	heart:	n/a
40	chr1:161475869-161475919	HEEpiC	esophagus:	n/a
41	chr1:161475869-161475919	MCF10A-Er-Src	breast:	n/a
42	chr1:161475869-161475919	PFSK-1	brain:	n/a
43	chr1:161475869-161475919	SK-N-SH	brain:	n/a
44	chr1:161475869-161475919	NT2-D1	testis:	n/a
45	chr1:161475869-161475919	AG04449	skin:	fetal
46	chr1:161475869-161475919	AG04450	lung:	fetal
47	chr1:161475869-161475919	AG09319	gingival:	n/a
48	chr1:161475869-161475919	NB4	blood:	n/a
49	chr1:161475869-161475919	ECC-1	luminal epithelium:	n/a
50	chr1:161475869-161475919	HEK293	kidney:	embryo

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161474965..161476524-chr1:161694397..161697249,2	K562	blood:
2	chr1:161474965..161477021-chr1:161694558..161697249,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPA6-3	chr1:161475777-161476239	NONHSAT007172

No data

Variant related genes	Relation type
FCGR2A	TF binding region
FCGR2A	CpG island
ENSG00000162746	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
9	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
10	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
11	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv433053	chr1:161389417-161673682	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv3243	chr1:161391435-161476893	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv433075	chr1:161395555-161673682	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv831725	chr1:161403030-161666732	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	esv2757757	chr1:161406313-161624427	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	esv1821964	chr1:161410458-161642332	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	esv18665	chr1:161411989-161544650	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	esv1812323	chr1:161413114-161624425	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	esv1814016	chr1:161413114-161624425	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv427841	chr1:161413114-161624425	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv831736	chr1:161413123-161624424	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	esv1824713	chr1:161414555-161642332	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	esv1821631	chr1:161414640-161644896	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	esv2750812	chr1:161463498-161639559	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	esv2752696	chr1:161463498-161639559	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	esv2750813	chr1:161463498-161673682	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
29	esv2750814	chr1:161463498-161673682	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
30	esv2755678	chr1:161463498-161678377	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
31	esv2752664	chr1:161463601-161673682	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
32	esv2756399	chr1:161463814-161639559	Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
33	nsv433086	chr1:161465420-161639559	Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
34	esv1799809	chr1:161467963-161650576	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
35	esv1819152	chr1:161473564-161647435	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
36	esv1813267	chr1:161473564-161650576	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
37	nsv482137	chr1:161475205-161489359	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161474200-161476400	Weak transcription	Osteobl	bone
2	chr1:161474400-161477000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:161474400-161477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:161474800-161476800	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:161475000-161476400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr1:161475000-161476600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:161475000-161477000	Enhancers	GM12878-XiMat	blood
8	chr1:161475000-161477200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:161475200-161476000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:161475200-161476200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr1:161475200-161476200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
12	chr1:161475200-161476200	Active TSS	Placenta	Placenta
13	chr1:161475200-161476400	Active TSS	Duodenum Mucosa	Duodenum
14	chr1:161475200-161477000	Active TSS	Brain Substantia Nigra	brain
15	chr1:161475200-161477000	Enhancers	Lung	lung
16	chr1:161475200-161477400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:161475200-161477400	Active TSS	Brain Anterior Caudate	brain
18	chr1:161475200-161477400	Enhancers	Fetal Thymus	thymus
19	chr1:161475200-161477600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:161475400-161476200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
21	chr1:161475400-161476200	Weak transcription	Pancreas	Pancrea
22	chr1:161475400-161477000	Enhancers	HUVEC	blood vessel
23	chr1:161475400-161477200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr1:161475400-161477400	Active TSS	Brain Hippocampus Middle	brain
25	chr1:161475400-161477600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:161475600-161476000	Active TSS	Brain Angular Gyrus	brain
27	chr1:161475600-161476000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
28	chr1:161475600-161476000	Active TSS	Right Ventricle	heart
29	chr1:161475600-161476200	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:161475600-161476800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr1:161475600-161477000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:161475600-161477000	Active TSS	Brain Cingulate Gyrus	brain
33	chr1:161475600-161477400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:161475600-161477400	Transcr. at gene 5' and 3'	K562	blood
35	chr1:161475800-161476200	Active TSS	Colonic Mucosa	Colon
36	chr1:161475800-161476600	Active TSS	Left Ventricle	heart
37	chr1:161475800-161476800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
38	chr1:161475800-161476800	Flanking Active TSS	HepG2	liver

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