Variant report

Variant	rs373758464
Chromosome Location	chr1:185014206-185014207
allele	A/C
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	JUND	chr1:185013647-185015660	K562	blood:	n/a	chr1:185014790-185014799
3	ARID3A	chr1:185013996-185014669	HepG2	liver:	n/a	n/a
4	CHD2	chr1:185014149-185015632	Hela-S3	cervix:	n/a	chr1:185014523-185014533 chr1:185014792-185014802 chr1:185015452-185015462
5	TAF1	chr1:185014156-185015627	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:185014179-185015201	Gliobla	brain:	n/a	n/a
7	POLR2A	chr1:185014149-185014919	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr1:185014161-185014946	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:185014193-185015289	HEK293	kidney:	n/a	n/a
10	ZBTB7A	chr1:185014140-185014667	K562	blood:	n/a	n/a
11	UBTF	chr1:185014058-185015797	K562	blood:	n/a	n/a
12	POLR2A	chr1:185014156-185015218	GM18505	blood:	n/a	n/a
13	POLR2A	chr1:185014189-185015413	MCF-7	breast:	n/a	n/a
14	MYC	chr1:185014007-185015181	K562	blood:	n/a	n/a
15	EP300	chr1:185014078-185014673	K562	blood:	n/a	n/a
16	MAX	chr1:185014090-185014967	MCF-7	breast:	n/a	n/a
17	MAFK	chr1:185013983-185014394	K562	blood:	n/a	n/a
18	POLR2A	chr1:185014156-185015112	HepG2	liver:	n/a	n/a
19	EP300	chr1:185014071-185014416	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:185014176-185015249	NB4	blood:	n/a	n/a
21	ZBTB7A	chr1:185014169-185015431	ECC-1	luminal epithelium:	n/a	chr1:185015258-185015267 chr1:185015141-185015149 chr1:185014867-185014875
22	E2F6	chr1:185014105-185015168	K562	blood:	n/a	chr1:185014577-185014589 chr1:185014791-185014800 chr1:185015135-185015144 chr1:185014549-185014558
23	POLR2A	chr1:185014177-185015651	K562	blood:	n/a	n/a
24	TAF1	chr1:185014090-185015043	ECC-1	luminal epithelium:	n/a	n/a
25	RAD21	chr1:185014171-185014812	H1-hESC	embryonic stem cell:	n/a	chr1:185014368-185014381
26	POLR2A	chr1:185014109-185015528	PFSK-1	brain:	n/a	n/a
27	SMARCB1	chr1:185014172-185015653	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:185014052-185015310	HUVEC	blood vessel:	n/a	n/a
29	FOXA1	chr1:185013916-185014607	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:185014202-185015222	A549	lung:	n/a	n/a
31	MTA3	chr1:185014074-185015706	GM12878	blood:	n/a	n/a
32	YY1	chr1:185014108-185015348	HepG2	liver:	n/a	chr1:185014552-185014561 chr1:185015135-185015144 chr1:185014682-185014699 chr1:185014494-185014508 chr1:185014491-185014500 chr1:185014788-185014799
33	MAX	chr1:185013991-185015334	ECC-1	luminal epithelium:	n/a	n/a
34	ELF1	chr1:185014186-185015445	GM12878	blood:	n/a	chr1:185014552-185014561 chr1:185015128-185015137 chr1:185014491-185014500 chr1:185015098-185015110 chr1:185014548-185014560 chr1:185015133-185015145
35	POLR2A	chr1:185014174-185014858	Hela-S3	cervix:	n/a	n/a
36	MAX	chr1:185014074-185015255	MCF-7	breast:	n/a	n/a
37	MXI1	chr1:185013761-185016879	SK-N-SH	brain:	n/a	n/a
38	MAX	chr1:185014095-185015118	SK-N-SH	brain:	n/a	n/a
39	E2F6	chr1:185014129-185015561	K562	blood:	n/a	chr1:185014577-185014589 chr1:185014791-185014800 chr1:185015135-185015144 chr1:185014549-185014558
40	TCF12	chr1:185013921-185015678	A549	lung:	n/a	n/a
41	ZNF143	chr1:185014109-185014720	Hela-S3	cervix:	n/a	chr1:185014593-185014603
42	CBX3	chr1:185013894-185015525	K562	blood:	n/a	n/a
43	YY1	chr1:185014197-185015336	GM12878	blood:	n/a	chr1:185014552-185014561 chr1:185015135-185015144 chr1:185014682-185014699 chr1:185014494-185014508 chr1:185014491-185014500 chr1:185014788-185014799
44	MAX	chr1:185013929-185015092	HCT-116	colon:	n/a	n/a
45	POLR2A	chr1:185014202-185014853	HUVEC	blood vessel:	n/a	n/a
46	SETDB1	chr1:185014198-185015460	K562	blood:	n/a	n/a
47	MAX	chr1:185014008-185015632	NB4	blood:	n/a	n/a
48	MAX	chr1:185013916-185015479	A549	lung:	n/a	n/a
49	ETS1	chr1:185014154-185015182	K562	blood:	n/a	chr1:185015133-185015144 chr1:185015049-185015066 chr1:185015135-185015148 chr1:185014881-185014892 chr1:185014789-185014800 chr1:185014232-185014248
50	MAX	chr1:185014132-185015305	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:185014181-185014231	PrEC	prostate:	n/a
2	chr1:185014181-185014231	T-47D	breast:	n/a
3	chr1:185014181-185014231	ECC-1	luminal epithelium:	n/a
4	chr1:185014181-185014231	A549	lung:	n/a
5	chr1:185014181-185014231	ProgFib	skin:	n/a
6	chr1:185014181-185014231	MCF10A-Er-Src	breast:	n/a
7	chr1:185014181-185014231	HCT-116	colon:	n/a
8	chr1:185014181-185014231	AG09309	skin:	n/a
9	chr1:185014181-185014231	SK-N-SH_RA	brain:	n/a
10	chr1:185014181-185014231	NHBE	bronchial:	n/a
11	chr1:185014181-185014231	Hepatocyte	liver:	n/a
12	chr1:185014181-185014231	HRE	kidney:	n/a
13	chr1:185014181-185014231	SK-N-SH	brain:	n/a
14	chr1:185014181-185014231	AoSMC	blood vessel:	n/a
15	chr1:185014181-185014231	HRPEpiC	eye:	n/a
16	chr1:185014181-185014231	HEEpiC	esophagus:	n/a
17	chr1:185014181-185014231	SK-N-MC	brain:	n/a
18	chr1:185014181-185014231	K562	blood:	n/a
19	chr1:185014181-185014231	AG04450	lung:	fetal
20	chr1:185014181-185014231	GM06990	blood:	n/a
21	chr1:185014181-185014231	GM12891	blood:	n/a
22	chr1:185014181-185014231	GM19239	blood:	n/a
23	chr1:185014181-185014231	CMK	blood:	n/a
24	chr1:185014181-185014231	Jurkat	blood:	n/a
25	chr1:185014181-185014231	RPTEC	kidney:	n/a
26	chr1:185014181-185014231	NB4	blood:	n/a
27	chr1:185014181-185014231	AG09319	gingival:	n/a
28	chr1:185014181-185014231	IMR90	lung:	fetal
29	chr1:185014181-185014231	MCF-7	breast:	n/a
30	chr1:185014181-185014231	HUVEC	blood vessel:	n/a
31	chr1:185014181-185014231	U87	brain:	n/a
32	chr1:185014181-185014231	PFSK-1	brain:	n/a
33	chr1:185014181-185014231	BJ	skin:	n/a
34	chr1:185014181-185014231	HIPEpiC	eye:	n/a
35	chr1:185014181-185014231	AG10803	skin:	n/a
36	chr1:185014181-185014231	HL-60	blood:	n/a
37	chr1:185014181-185014231	Caco-2	colon:	n/a
38	chr1:185014181-185014231	NHDF-neo	bronchial:	n/a
39	chr1:185014181-185014231	LNCaP	prostate:	n/a
40	chr1:185014181-185014231	BE2_C	brain:	n/a
41	chr1:185014181-185014231	HRCEpiC	kidney:	n/a
42	chr1:185014181-185014231	ovcar-3	ovarian:	n/a
43	chr1:185014181-185014231	H1-hESC	embryonic stem cell:	embryo
44	chr1:185014181-185014231	HEK293	kidney:	embryo
45	chr1:185014181-185014231	NT2-D1	testis:	n/a
46	chr1:185014181-185014231	AG04449	skin:	fetal
47	chr1:185014181-185014231	HNPCEpiC	eye:	n/a
48	chr1:185014181-185014231	GM12892	blood:	n/a
49	chr1:185014181-185014231	HCM	heart:	n/a
50	chr1:185014181-185014231	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:185012738..185016714-chr1:185123889..185127545,9	K562	blood:
2	chr1:185013842..185016800-chr1:185124120..185127493,5	MCF-7	breast:
3	chr1:184941138..184943515-chr1:185012025..185014366,2	K562	blood:
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	chr1:184722993..184726139-chr1:185013897..185016469,4	K562	blood:

Variant related genes	Relation type
RNF2	TF binding region
RNF2	CpG island
ENSG00000121486	Chromatin interaction
ENSG00000116406	Chromatin interaction
ENSG00000167703	Chromatin interaction
ENSG00000136997	Chromatin interaction
ENSG00000116668	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:117 , 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	chr1:185013800-185014400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr1:185013800-185014400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr1:185013800-185014400	Flanking Active TSS	K562	blood
6	chr1:185013800-185015400	Active TSS	Duodenum Mucosa	Duodenum
7	chr1:185013800-185015400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:185013800-185015400	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr1:185013800-185015600	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr1:185013800-185015800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:185013800-185015800	Active TSS	Fetal Lung	lung
12	chr1:185013800-185016200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:185013800-185016200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:185013800-185016600	Active TSS	GM12878-XiMat	blood
15	chr1:185013800-185017000	Active TSS	NHLF	lung
16	chr1:185014000-185014400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:185014000-185014400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:185014000-185014400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr1:185014000-185014400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:185014000-185014400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr1:185014000-185014400	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr1:185014000-185014400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr1:185014000-185014400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:185014000-185014400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:185014000-185014400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:185014000-185014400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr1:185014000-185014400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:185014000-185014400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:185014000-185014400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:185014000-185014400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr1:185014000-185014400	Flanking Active TSS	Liver	Liver
32	chr1:185014000-185014400	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr1:185014000-185014400	Flanking Active TSS	Fetal Kidney	kidney
34	chr1:185014000-185014400	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr1:185014000-185014400	Flanking Active TSS	Dnd41	blood
36	chr1:185014000-185014400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:185014000-185014400	Flanking Active TSS	NHDF-Ad	bronchial
38	chr1:185014000-185014600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:185014000-185014800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:185014000-185015400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:185014000-185015400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr1:185014000-185015400	Active TSS	Hela-S3	cervix
43	chr1:185014000-185015600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr1:185014000-185015600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:185014000-185015600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:185014000-185015600	Active TSS	Brain Angular Gyrus	brain
47	chr1:185014000-185015600	Active TSS	Brain Cingulate Gyrus	brain
48	chr1:185014000-185015600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:185014000-185015800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:185014000-185015800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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