Variant report

Variant	rs573914186
Chromosome Location	chr2:96196627-96196628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr2:96196389-96197586	GM12878	blood:	n/a	n/a
2	JUND	chr2:96196275-96196978	SK-N-SH	brain:	n/a	n/a
3	PML	chr2:96196358-96197300	GM12878	blood:	n/a	n/a
4	IKZF1	chr2:96196542-96197305	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:96196452-96196859	U87	brain:	n/a	n/a
6	NFATC1	chr2:96196378-96196870	GM12878	blood:	n/a	n/a
7	FOS	chr2:96196408-96196749	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT5A	chr2:96196424-96196853	GM12878	blood:	n/a	n/a
9	RAD21	chr2:96196472-96196704	SK-N-SH_RA	brain:	n/a	n/a
10	POLR2A	chr2:96196296-96196721	GM12891	blood:	n/a	n/a
11	PBX3	chr2:96196508-96196798	GM12878	blood:	n/a	n/a
12	EBF1	chr2:96196414-96197043	GM12878	blood:	n/a	chr2:96196791-96196802
13	STAT5A	chr2:96196247-96196806	GM12878	blood:	n/a	n/a
14	STAT3	chr2:96196538-96196682	MCF10A-Er-Src	breast:	n/a	n/a
15	RUNX3	chr2:96196474-96196754	GM12878	blood:	n/a	n/a
16	MAX	chr2:96196451-96196683	GM12878	blood:	n/a	n/a
17	TBL1XR1	chr2:96196541-96196775	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:96196319-96196829	U87	brain:	n/a	n/a
19	IRF4	chr2:96196348-96196917	GM12878	blood:	n/a	n/a
20	IRF4	chr2:96196371-96196863	GM12878	blood:	n/a	n/a
21	TCF3	chr2:96196487-96196717	GM12878	blood:	n/a	n/a
22	WRNIP1	chr2:96196367-96196753	GM12878	blood:	n/a	n/a
23	PAX5	chr2:96196311-96196971	GM12878	blood:	n/a	n/a
24	ZNF143	chr2:96196561-96197104	GM12878	blood:	n/a	n/a
25	MTA3	chr2:96196513-96197211	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:96196229-96196753	GM12892	blood:	n/a	n/a
27	POLR2A	chr2:96196373-96196859	U87	brain:	n/a	n/a
28	POLR2A	chr2:96196383-96196747	IMR90	lung:	n/a	n/a
29	MTA3	chr2:96196360-96197699	GM12878	blood:	n/a	n/a
30	NFATC1	chr2:96196380-96196923	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:96196298-96196911	GM12892	blood:	n/a	n/a
32	POLR2A	chr2:96196105-96197103	GM12892	blood:	n/a	n/a
33	BCL3	chr2:96196371-96196868	GM12878	blood:	n/a	n/a
34	ATF2	chr2:96196438-96196882	GM12878	blood:	n/a	n/a
35	BHLHE40	chr2:96196496-96196958	GM12878	blood:	n/a	n/a
36	RELA	chr2:96196483-96197587	GM19193	blood:	n/a	n/a
37	POLR2A	chr2:96196547-96196747	GM12878	blood:	n/a	n/a
38	FOSL2	chr2:96196329-96196942	SK-N-SH	brain:	n/a	n/a
39	BATF	chr2:96196382-96197020	GM12878	blood:	n/a	n/a
40	CEBPB	chr2:96196346-96196776	IMR90	lung:	n/a	n/a
41	FOS	chr2:96196420-96196761	MCF10A-Er-Src	breast:	n/a	n/a
42	MAFK	chr2:96196488-96196876	IMR90	lung:	n/a	n/a
43	EP300	chr2:96196497-96196911	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:96196219-96196906	GM12892	blood:	n/a	n/a
45	MXI1	chr2:96196073-96196778	IMR90	lung:	n/a	n/a
46	ATF2	chr2:96196364-96196820	GM12878	blood:	n/a	n/a
47	RFX5	chr2:96196557-96196733	GM12878	blood:	n/a	n/a
48	FOS	chr2:96196211-96196764	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT1	chr2:96196559-96196921	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:96196481-96196714	ProgFib	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96196596-96196646	Jurkat	blood:	n/a
2	chr2:96196596-96196646	HCM	heart:	n/a
3	chr2:96196596-96196646	GM12892	blood:	n/a
4	chr2:96196596-96196646	A549	lung:	n/a
5	chr2:96196596-96196646	HCPEpiC	choroid plexus:	n/a
6	chr2:96196596-96196646	NHBE	bronchial:	n/a
7	chr2:96196596-96196646	ovcar-3	ovarian:	n/a
8	chr2:96196596-96196646	SK-N-SH_RA	brain:	n/a
9	chr2:96196596-96196646	Hepatocyte	liver:	n/a
10	chr2:96196596-96196646	NT2-D1	testis:	n/a
11	chr2:96196596-96196646	HIPEpiC	eye:	n/a
12	chr2:96196596-96196646	Hela-S3	cervix:	n/a
13	chr2:96196596-96196646	HCF	heart:	n/a
14	chr2:96196596-96196646	GM12878	blood:	n/a
15	chr2:96196596-96196646	MCF-7	breast:	n/a
16	chr2:96196596-96196646	AG04450	lung:	fetal
17	chr2:96196596-96196646	HRCEpiC	kidney:	n/a
18	chr2:96196596-96196646	AG10803	skin:	n/a
19	chr2:96196596-96196646	BJ	skin:	n/a
20	chr2:96196596-96196646	HL-60	blood:	n/a
21	chr2:96196596-96196646	HNPCEpiC	eye:	n/a
22	chr2:96196596-96196646	HepG2	liver:	n/a
23	chr2:96196596-96196646	SK-N-SH	brain:	n/a
24	chr2:96196596-96196646	SK-N-MC	brain:	n/a
25	chr2:96196596-96196646	ECC-1	luminal epithelium:	n/a
26	chr2:96196596-96196646	K562	blood:	n/a
27	chr2:96196596-96196646	HMEC	breast:	n/a
28	chr2:96196596-96196646	NB4	blood:	n/a
29	chr2:96196596-96196646	NHDF-neo	bronchial:	n/a
30	chr2:96196596-96196646	PrEC	prostate:	n/a
31	chr2:96196596-96196646	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:96196596-96196646	PANC-1	pancreas:	n/a
33	chr2:96196596-96196646	RPTEC	kidney:	n/a
34	chr2:96196596-96196646	H1-hESC	embryonic stem cell:	embryo
35	chr2:96196596-96196646	HEK293	kidney:	embryo
36	chr2:96196596-96196646	MCF10A-Er-Src	breast:	n/a
37	chr2:96196596-96196646	AoSMC	blood vessel:	n/a
38	chr2:96196596-96196646	GM12891	blood:	n/a
39	chr2:96196596-96196646	HRPEpiC	eye:	n/a
40	chr2:96196596-96196646	CMK	blood:	n/a
41	chr2:96196596-96196646	T-47D	breast:	n/a
42	chr2:96196596-96196646	AG04449	skin:	fetal
43	chr2:96196596-96196646	IMR90	lung:	fetal
44	chr2:96196596-96196646	HCT-116	colon:	n/a
45	chr2:96196596-96196646	U87	brain:	n/a
46	chr2:96196596-96196646	NH-A	brain:	n/a
47	chr2:96196596-96196646	SAEC	small airway:	n/a
48	chr2:96196596-96196646	PFSK-1	brain:	n/a
49	chr2:96196596-96196646	ProgFib	skin:	n/a
50	chr2:96196596-96196646	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000272913	TF binding region
ENSG00000272913	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv834300	chr2:96087967-96337557	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1006283	chr2:96159804-96206863	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001305	chr2:96161688-96259200	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1008062	chr2:96166970-96259200	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv998984	chr2:96166970-96290275	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv998587	chr2:96170558-96378228	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv961452	chr2:96195565-96199535	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96192200-96197800	Weak transcription	Fetal Heart	heart
2	chr2:96192400-96196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:96193200-96196800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:96193200-96197000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:96193200-96199000	Weak transcription	HSMMtube	muscle
6	chr2:96193400-96198000	Weak transcription	Colonic Mucosa	Colon
7	chr2:96193400-96199000	Weak transcription	Fetal Brain Male	brain
8	chr2:96193600-96196800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:96193600-96197000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:96193600-96198200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:96193600-96198800	Weak transcription	Fetal Thymus	thymus
12	chr2:96193800-96197000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:96193800-96197000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:96193800-96197400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:96193800-96199000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:96193800-96200400	Weak transcription	Stomach Mucosa	stomach
17	chr2:96194000-96198000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:96194000-96198400	Weak transcription	HMEC	breast
19	chr2:96194200-96197600	Strong transcription	HSMM	muscle
20	chr2:96194400-96196800	Strong transcription	Brain Angular Gyrus	brain
21	chr2:96194400-96197600	ZNF genes & repeats	Aorta	Aorta
22	chr2:96194400-96197800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:96194400-96197800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr2:96194400-96197800	Genic enhancers	Gastric	stomach
25	chr2:96194400-96198000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:96194400-96198000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr2:96194400-96207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:96194600-96196800	ZNF genes & repeats	Ovary	ovary
29	chr2:96194600-96197000	Strong transcription	Adipose Nuclei	Adipose
30	chr2:96194600-96197600	Strong transcription	NHEK	skin
31	chr2:96194800-96196800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:96194800-96197400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:96194800-96197600	Strong transcription	Thymus	Thymus
34	chr2:96194800-96197800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:96194800-96197800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:96194800-96197800	Strong transcription	Fetal Brain Female	brain
37	chr2:96195000-96197200	ZNF genes & repeats	Lung	lung
38	chr2:96195000-96197600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:96195000-96197600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:96195000-96197600	Strong transcription	Fetal Intestine Large	intestine
41	chr2:96195000-96197800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:96195000-96198000	Strong transcription	Liver	Liver
43	chr2:96195200-96197000	Strong transcription	Pancreas	Pancrea
44	chr2:96195200-96197400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr2:96195200-96197600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:96195200-96199000	Weak transcription	Fetal Kidney	kidney
47	chr2:96195400-96197400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:96195600-96197200	Strong transcription	Right Ventricle	heart
49	chr2:96195600-96197600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr2:96195600-96197600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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