Variant report

Variant	rs397982247
Chromosome Location	chr1:185014509-185014510
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:185014026-185015325	A549	lung:	n/a	n/a
2	POU2F2	chr1:185014471-185014832	GM12878	blood:	n/a	chr1:185014626-185014639 chr1:185014585-185014597 chr1:185014788-185014800
3	JUND	chr1:185013647-185015660	K562	blood:	n/a	chr1:185014790-185014799
4	EP300	chr1:185014276-185014790	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:185014495-185014528	LNCaP	prostate:	n/a	n/a
6	ARID3A	chr1:185013996-185014669	HepG2	liver:	n/a	n/a
7	CHD2	chr1:185014149-185015632	Hela-S3	cervix:	n/a	chr1:185014523-185014533 chr1:185014792-185014802 chr1:185015452-185015462
8	JUND	chr1:185014308-185015176	A549	lung:	n/a	chr1:185014790-185014799
9	POLR2A	chr1:185014252-185014862	HepG2	liver:	n/a	n/a
10	TAF1	chr1:185014156-185015627	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:185014179-185015201	Gliobla	brain:	n/a	n/a
12	POLR2A	chr1:185014149-185014919	PANC-1	pancreas:	n/a	n/a
13	MYC	chr1:185014298-185014539	GM12878	blood:	n/a	n/a
14	CTCF	chr1:185014287-185014814	GM12878	blood:	n/a	chr1:185014367-185014380
15	MYC	chr1:185014227-185015191	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr1:185014161-185014946	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr1:185014363-185014642	GM12892	blood:	n/a	chr1:185014367-185014380
18	POLR2A	chr1:185014193-185015289	HEK293	kidney:	n/a	n/a
19	MXI1	chr1:185014442-185015327	K562	blood:	n/a	n/a
20	ZBTB7A	chr1:185014140-185014667	K562	blood:	n/a	n/a
21	CTCF	chr1:185014400-185014550	GM12875	blood:	n/a	n/a
22	USF2	chr1:185014257-185014699	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:185014230-185015297	GM15510	blood:	n/a	n/a
24	UBTF	chr1:185014058-185015797	K562	blood:	n/a	n/a
25	GATA3	chr1:185014434-185014861	T-47D	breast:	n/a	n/a
26	E2F4	chr1:185014389-185014785	MCF10A-Er-Src	breast:	n/a	chr1:185014577-185014589 chr1:185014576-185014587 chr1:185014549-185014558
27	CTCF	chr1:185014383-185014588	A549	lung:	n/a	n/a
28	YY1	chr1:185014312-185015205	GM12878	blood:	n/a	chr1:185014552-185014561 chr1:185015135-185015144 chr1:185014682-185014699 chr1:185014494-185014508 chr1:185014491-185014500 chr1:185014788-185014799
29	CTCF	chr1:185014416-185014580	K562	blood:	n/a	n/a
30	YY1	chr1:185014477-185014873	GM12891	blood:	n/a	chr1:185014552-185014561 chr1:185014682-185014699 chr1:185014494-185014508 chr1:185014491-185014500 chr1:185014788-185014799
31	POLR2A	chr1:185014156-185015218	GM18505	blood:	n/a	n/a
32	CTCF	chr1:185014360-185014510	GM12865	blood:	n/a	chr1:185014367-185014380
33	POLR2A	chr1:185014189-185015413	MCF-7	breast:	n/a	n/a
34	POLR2A	chr1:185014235-185015270	GM19099	blood:	n/a	n/a
35	RAD21	chr1:185014356-185014718	SK-N-SH_RA	brain:	n/a	chr1:185014368-185014381
36	SIN3AK20	chr1:185014295-185015275	K562	blood:	n/a	n/a
37	YY1	chr1:185014467-185015002	HepG2	liver:	n/a	chr1:185014552-185014561 chr1:185014682-185014699 chr1:185014494-185014508 chr1:185014491-185014500 chr1:185014788-185014799
38	MYC	chr1:185014007-185015181	K562	blood:	n/a	n/a
39	PML	chr1:185014316-185015570	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:185014386-185015431	IMR90	lung:	n/a	n/a
41	BACH1	chr1:185014344-185014718	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr1:185014240-185014733	K562	blood:	n/a	chr1:185014367-185014380
43	EP300	chr1:185014078-185014673	K562	blood:	n/a	n/a
44	ZKSCAN1	chr1:185014298-185014720	Hela-S3	cervix:	n/a	n/a
45	TBP	chr1:185014469-185014730	HepG2	liver:	n/a	n/a
46	CTCF	chr1:185014460-185014610	AG04449	skin:	n/a	n/a
47	CTCF	chr1:185014360-185014510	Hela-S3	cervix:	n/a	chr1:185014367-185014380
48	POLR2A	chr1:185014460-185014758	GM12891	blood:	n/a	n/a
49	MAX	chr1:185014090-185014967	MCF-7	breast:	n/a	n/a
50	POLR2A	chr1:185014268-185015238	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:185014501..185017888-chr1:185123055..185126846,5	MCF-7	breast:
2	chr1:185012738..185016714-chr1:185123889..185127545,9	K562	blood:
3	chr1:185013842..185016800-chr1:185124120..185127493,5	MCF-7	breast:
4	chr1:185013977..185014692-chr17:1531841..1532366,2	Hela-S3	cervix:
5	chr1:185014175..185016130-chr8:128748218..128750891,2	MCF-7	breast:
6	chr1:185012738..185017820-chr1:185123187..185127311,9	K562	blood:
7	chr1:185014410..185016846-chr1:185107860..185109945,2	K562	blood:
8	chr1:184722993..184726139-chr1:185013897..185016469,4	K562	blood:

Variant related genes	Relation type
RNF2	TF binding region
ENSG00000116668	Chromatin interaction
ENSG00000136997	Chromatin interaction
ENSG00000167703	Chromatin interaction
ENSG00000121486	Chromatin interaction
ENSG00000116406	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv947340	chr1:185012848-185017415	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
5	esv3421775	chr1:185013354-185016202	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185013600-185016000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:185013600-185016200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:185013800-185015400	Active TSS	Duodenum Mucosa	Duodenum
4	chr1:185013800-185015400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:185013800-185015400	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr1:185013800-185015600	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr1:185013800-185015800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:185013800-185015800	Active TSS	Fetal Lung	lung
9	chr1:185013800-185016200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:185013800-185016200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr1:185013800-185016600	Active TSS	GM12878-XiMat	blood
12	chr1:185013800-185017000	Active TSS	NHLF	lung
13	chr1:185014000-185014600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:185014000-185014800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:185014000-185015400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:185014000-185015400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr1:185014000-185015400	Active TSS	Hela-S3	cervix
18	chr1:185014000-185015600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr1:185014000-185015600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:185014000-185015600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:185014000-185015600	Active TSS	Brain Angular Gyrus	brain
22	chr1:185014000-185015600	Active TSS	Brain Cingulate Gyrus	brain
23	chr1:185014000-185015600	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:185014000-185015800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:185014000-185015800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:185014000-185015800	Active TSS	Brain Hippocampus Middle	brain
27	chr1:185014000-185015800	Active TSS	Brain Substantia Nigra	brain
28	chr1:185014000-185015800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:185014000-185015800	Active TSS	Right Ventricle	heart
30	chr1:185014000-185016000	Active TSS	Muscle Satellite Cultured Cells	--
31	chr1:185014000-185016000	Active TSS	Colonic Mucosa	Colon
32	chr1:185014000-185016000	Active TSS	Colon Smooth Muscle	Colon
33	chr1:185014000-185016000	Active TSS	Fetal Muscle Trunk	muscle
34	chr1:185014000-185016000	Active TSS	Psoas Muscle	Psoas
35	chr1:185014000-185016000	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:185014000-185016000	Active TSS	Thymus	Thymus
37	chr1:185014000-185016000	Active TSS	HSMM	muscle
38	chr1:185014000-185016000	Active TSS	NHEK	skin
39	chr1:185014000-185016200	Active TSS	Fetal Intestine Large	intestine
40	chr1:185014000-185016200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr1:185014000-185016200	Active TSS	Stomach Smooth Muscle	stomach
42	chr1:185014000-185016200	Active TSS	HMEC	breast
43	chr1:185014200-185015000	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr1:185014200-185015200	Active TSS	Primary hematopoietic stem cells	blood
45	chr1:185014200-185015200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:185014200-185015200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr1:185014200-185015400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr1:185014200-185015400	Active TSS	Spleen	Spleen
49	chr1:185014200-185015400	Active TSS	Osteobl	bone
50	chr1:185014200-185015600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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