Variant report

Variant	rs74140968
Chromosome Location	chr1:228295582-228295583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:228295206-228295688	K562	blood:	n/a	n/a
2	POLR2A	chr1:228295080-228298357	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:228295109-228295828	SK-N-MC	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228295568-228295618	SK-N-SH_RA	brain:	n/a
2	chr1:228295568-228295618	SAEC	small airway:	n/a
3	chr1:228295568-228295618	ECC-1	luminal epithelium:	n/a
4	chr1:228295568-228295618	NB4	blood:	n/a
5	chr1:228295568-228295618	HEEpiC	esophagus:	n/a
6	chr1:228295568-228295618	HCT-116	colon:	n/a
7	chr1:228295568-228295618	HAEpiC	amniotic membrane:	n/a
8	chr1:228295568-228295618	SKMC	muscle:	n/a
9	chr1:228295568-228295618	A549	lung:	n/a
10	chr1:228295568-228295618	HRE	kidney:	n/a
11	chr1:228295568-228295618	HepG2	liver:	n/a
12	chr1:228295568-228295618	Jurkat	blood:	n/a
13	chr1:228295568-228295618	NT2-D1	testis:	n/a
14	chr1:228295568-228295618	AG04450	lung:	fetal
15	chr1:228295568-228295618	NHBE	bronchial:	n/a
16	chr1:228295568-228295618	HCM	heart:	n/a
17	chr1:228295568-228295618	AG09309	skin:	n/a
18	chr1:228295568-228295618	PANC-1	pancreas:	n/a
19	chr1:228295568-228295618	AoSMC	blood vessel:	n/a
20	chr1:228295568-228295618	BJ	skin:	n/a
21	chr1:228295568-228295618	PrEC	prostate:	n/a
22	chr1:228295568-228295618	HNPCEpiC	eye:	n/a
23	chr1:228295568-228295618	HMEC	breast:	n/a
24	chr1:228295568-228295618	SK-N-MC	brain:	n/a
25	chr1:228295568-228295618	T-47D	breast:	n/a
26	chr1:228295568-228295618	Hepatocyte	liver:	n/a
27	chr1:228295568-228295618	GM12892	blood:	n/a
28	chr1:228295568-228295618	Caco-2	colon:	n/a
29	chr1:228295568-228295618	GM12878	blood:	n/a
30	chr1:228295568-228295618	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:228295568-228295618	HUVEC	blood vessel:	n/a
32	chr1:228295568-228295618	U87	brain:	n/a
33	chr1:228295568-228295618	HEK293	kidney:	embryo
34	chr1:228295568-228295618	ProgFib	skin:	n/a
35	chr1:228295568-228295618	AG09319	gingival:	n/a
36	chr1:228295568-228295618	ovcar-3	ovarian:	n/a
37	chr1:228295568-228295618	GM19239	blood:	n/a
38	chr1:228295568-228295618	K562	blood:	n/a
39	chr1:228295568-228295618	RPTEC	kidney:	n/a
40	chr1:228295568-228295618	HL-60	blood:	n/a
41	chr1:228295568-228295618	LNCaP	prostate:	n/a
42	chr1:228295568-228295618	HIPEpiC	eye:	n/a
43	chr1:228295568-228295618	GM12891	blood:	n/a
44	chr1:228295568-228295618	HRPEpiC	eye:	n/a
45	chr1:228295568-228295618	Hela-S3	cervix:	n/a
46	chr1:228295568-228295618	NH-A	brain:	n/a
47	chr1:228295568-228295618	PFSK-1	brain:	n/a
48	chr1:228295568-228295618	BE2_C	brain:	n/a
49	chr1:228295568-228295618	IMR90	lung:	fetal
50	chr1:228295568-228295618	MCF10A-Er-Src	breast:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228294222..228297212-chr1:228327852..228330069,2	MCF-7	breast:
2	chr1:228295318..228298683-chr1:228360322..228363984,4	K562	blood:
3	chr1:228295479..228298124-chr1:228352385..228354527,2	MCF-7	breast:
4	chr1:228266682..228273620-chr1:228293839..228298603,9	MCF-7	breast:
5	chr1:228292983..228294840-chr1:228295520..228297774,2	MCF-7	breast:
6	chr1:228274118..228278669-chr1:228294195..228297645,6	MCF-7	breast:
7	chr1:228293945..228298846-chr1:228325398..228330582,13	K562	blood:
8	chr1:228293306..228296150-chr1:228462712..228464969,2	K562	blood:
9	chr1:228294705..228298588-chr1:228325821..228329680,6	MCF-7	breast:
10	chr1:228295286..228298610-chr1:228351640..228355026,4	K562	blood:
11	chr1:228294689..228298417-chr1:228352364..228354856,6	MCF-7	breast:
12	chr1:228295402..228297803-chr1:228330568..228332279,2	MCF-7	breast:
13	chr1:228288384..228298705-chr1:228351640..228357240,26	K562	blood:
14	chr1:228293945..228298682-chr1:228326047..228331152,9	K562	blood:
15	chr1:228295500..228297827-chr1:228593936..228595478,2	K562	blood:

No data

Variant related genes	Relation type
C1orf35	TF binding region
C1orf35	CpG island
ENSG00000143761	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000231563	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000269934	Chromatin interaction
ENSG00000154370	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12026579	0.92[AMR][1000 genomes]
rs12031390	0.92[AMR][1000 genomes]
rs12038612	0.92[AMR][1000 genomes]
rs12039528	0.92[AMR][1000 genomes]
rs12040506	0.92[AMR][1000 genomes]
rs12044962	0.92[AMR][1000 genomes]
rs12049152	0.92[AMR][1000 genomes]
rs2298013	0.92[AMR][1000 genomes]
rs3754358	0.92[AMR][1000 genomes]
rs3754359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55686465	0.92[AFR][1000 genomes]
rs56003736	0.92[AFR][1000 genomes]
rs56029925	0.92[AFR][1000 genomes]
rs56080014	0.85[AFR][1000 genomes]
rs56154605	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58045861	0.85[AFR][1000 genomes]
rs61230585	0.92[AFR][1000 genomes]
rs74140905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140910	0.92[AFR][1000 genomes]
rs74140916	0.92[AFR][1000 genomes]
rs74140919	0.92[AFR][1000 genomes]
rs74140923	0.92[AFR][1000 genomes]
rs74140953	0.92[AFR][1000 genomes]
rs74140954	0.92[AFR][1000 genomes]
rs74140955	0.92[AFR][1000 genomes]
rs74140956	0.92[AFR][1000 genomes]
rs74140957	0.92[AFR][1000 genomes]
rs74140962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140963	0.92[AFR][1000 genomes]
rs74140967	0.92[AFR][1000 genomes]
rs74140971	0.85[AFR][1000 genomes]
rs74140972	0.85[AFR][1000 genomes]
rs74140973	0.85[AFR][1000 genomes]
rs74140974	0.85[AFR][1000 genomes]
rs74140975	0.85[AFR][1000 genomes]
rs74140976	0.85[AFR][1000 genomes]
rs74140977	0.85[AFR][1000 genomes]
rs74140978	0.85[AFR][1000 genomes]
rs74140980	0.85[AFR][1000 genomes]
rs74140981	0.85[AFR][1000 genomes]
rs74140982	0.85[AFR][1000 genomes]
rs74140985	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74143629	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74143633	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
10	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
12	nsv482143	chr1:228294380-228297013	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228291400-228296400	Weak transcription	Aorta	Aorta
2	chr1:228291600-228296000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:228291800-228295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:228291800-228295600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:228291800-228296200	Weak transcription	NH-A	brain
6	chr1:228291800-228296400	Weak transcription	Small Intestine	intestine
7	chr1:228292000-228295800	Weak transcription	Fetal Brain Male	brain
8	chr1:228292000-228296000	Weak transcription	Fetal Kidney	kidney
9	chr1:228292000-228296000	Weak transcription	HUVEC	blood vessel
10	chr1:228292000-228296200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:228292000-228296200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:228292200-228295600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:228292200-228295600	Weak transcription	NHEK	skin
14	chr1:228292200-228295800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:228292200-228295800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:228292200-228296000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:228292200-228296200	Weak transcription	Psoas Muscle	Psoas
18	chr1:228292400-228295600	Strong transcription	Fetal Stomach	stomach
19	chr1:228292400-228295800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:228292600-228295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:228292600-228295600	Strong transcription	Fetal Intestine Small	intestine
22	chr1:228292600-228295800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:228292600-228296200	Weak transcription	Right Atrium	heart
24	chr1:228292800-228295600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:228292800-228296000	Weak transcription	Fetal Heart	heart
26	chr1:228292800-228296200	Weak transcription	NHDF-Ad	bronchial
27	chr1:228293000-228295600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:228293000-228295600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:228293000-228295800	Strong transcription	NHLF	lung
30	chr1:228293200-228295600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:228293200-228295600	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr1:228293200-228295800	Strong transcription	Thymus	Thymus
33	chr1:228293400-228295600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:228293400-228295600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:228293400-228295600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:228293400-228295600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:228293400-228295600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:228293400-228295600	Strong transcription	Liver	Liver
39	chr1:228293400-228295600	Strong transcription	Brain Anterior Caudate	brain
40	chr1:228293400-228295600	Strong transcription	Brain Hippocampus Middle	brain
41	chr1:228293400-228295600	Strong transcription	Brain Substantia Nigra	brain
42	chr1:228293400-228295600	Strong transcription	Fetal Intestine Large	intestine
43	chr1:228293400-228295600	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:228293400-228295600	Strong transcription	Fetal Thymus	thymus
45	chr1:228293400-228295800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:228293600-228295600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:228293600-228295600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:228293600-228295600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:228293600-228295600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:228293600-228295600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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