Variant report

Variant	rs557634593
Chromosome Location	chr1:185014154-185014155
allele	G/T
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	POLR2A	chr1:185014149-185014919	PANC-1	pancreas:	n/a	n/a
6	ZBTB7A	chr1:185014140-185014667	K562	blood:	n/a	n/a
7	UBTF	chr1:185014058-185015797	K562	blood:	n/a	n/a
8	MYC	chr1:185014007-185015181	K562	blood:	n/a	n/a
9	EP300	chr1:185014078-185014673	K562	blood:	n/a	n/a
10	MAX	chr1:185014090-185014967	MCF-7	breast:	n/a	n/a
11	MAFK	chr1:185013983-185014394	K562	blood:	n/a	n/a
12	EP300	chr1:185014071-185014416	GM12878	blood:	n/a	n/a
13	E2F6	chr1:185014105-185015168	K562	blood:	n/a	chr1:185014577-185014589 chr1:185014791-185014800 chr1:185015135-185015144 chr1:185014549-185014558
14	TAF1	chr1:185014090-185015043	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr1:185014109-185015528	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr1:185014052-185015310	HUVEC	blood vessel:	n/a	n/a
17	FOXA1	chr1:185013916-185014607	HepG2	liver:	n/a	n/a
18	MTA3	chr1:185014074-185015706	GM12878	blood:	n/a	n/a
19	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
20	MAX	chr1:185013991-185015334	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr1:185014074-185015255	MCF-7	breast:	n/a	n/a
22	MXI1	chr1:185013761-185016879	SK-N-SH	brain:	n/a	n/a
23	MAX	chr1:185014095-185015118	SK-N-SH	brain:	n/a	n/a
24	E2F6	chr1:185014129-185015561	K562	blood:	n/a	chr1:185014577-185014589 chr1:185014791-185014800 chr1:185015135-185015144 chr1:185014549-185014558
25	TCF12	chr1:185013921-185015678	A549	lung:	n/a	n/a
26	ZNF143	chr1:185014109-185014720	Hela-S3	cervix:	n/a	chr1:185014593-185014603
27	CBX3	chr1:185013894-185015525	K562	blood:	n/a	n/a
28	MAX	chr1:185013929-185015092	HCT-116	colon:	n/a	n/a
29	MAX	chr1:185014008-185015632	NB4	blood:	n/a	n/a
30	MAX	chr1:185013916-185015479	A549	lung:	n/a	n/a
31	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
32	MAX	chr1:185014132-185015305	HepG2	liver:	n/a	n/a
33	MAX	chr1:185013999-185014720	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZBTB7A	chr1:185014104-185014734	ECC-1	luminal epithelium:	n/a	n/a
35	MYC	chr1:185014076-185015250	NB4	blood:	n/a	n/a
36	POLR2A	chr1:185013981-185015708	SK-N-MC	brain:	n/a	n/a
37	TCF7L2	chr1:185014055-185014255	PANC-1	pancreas:	n/a	n/a
38	MYC	chr1:185013714-185014257	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr1:185014140-185015621	K562	blood:	n/a	n/a
40	POLR2A	chr1:185014136-185015147	HCT-116	colon:	n/a	n/a
41	MAX	chr1:185013985-185015576	GM12878	blood:	n/a	n/a
42	RUNX3	chr1:185014062-185015088	GM12878	blood:	n/a	n/a
43	TBP	chr1:185013955-185015423	K562	blood:	n/a	n/a
44	MAX	chr1:185014036-185015621	H1-hESC	embryonic stem cell:	n/a	n/a
45	E2F6	chr1:185014090-185015599	H1-hESC	embryonic stem cell:	n/a	chr1:185014577-185014589 chr1:185014791-185014800 chr1:185015135-185015144 chr1:185014549-185014558
46	CREB1	chr1:185014131-185014924	A549	lung:	n/a	n/a
47	RUNX3	chr1:185014145-185015238	GM12878	blood:	n/a	n/a
48	MAX	chr1:185014138-185015577	K562	blood:	n/a	n/a
49	HEY1	chr1:185014099-185015168	HepG2	liver:	n/a	chr1:185014788-185014803 chr1:185015113-185015128 chr1:185015105-185015120 chr1:185015104-185015119 chr1:185014593-185014608
50	RFX5	chr1:185014033-185014280	HepG2	liver:	n/a	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	chr1:185012738..185017820-chr1:185123187..185127311,9	K562	blood:
6	chr1:184722993..184726139-chr1:185013897..185016469,4	K562	blood:

Variant related genes	Relation type
RNF2	TF binding region
ENSG00000116406	Chromatin interaction
ENSG00000116668	Chromatin interaction
ENSG00000167703	Chromatin interaction
ENSG00000121486	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:94 , 50 per page) page: 1 2

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	chr1:185013800-185014200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:185013800-185014200	Flanking Active TSS	Fetal Intestine Small	intestine
5	chr1:185013800-185014200	Flanking Active TSS	HepG2	liver
6	chr1:185013800-185014400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:185013800-185014400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:185013800-185014400	Flanking Active TSS	K562	blood
9	chr1:185013800-185015400	Active TSS	Duodenum Mucosa	Duodenum
10	chr1:185013800-185015400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:185013800-185015400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr1:185013800-185015600	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:185013800-185015800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:185013800-185015800	Active TSS	Fetal Lung	lung
15	chr1:185013800-185016200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:185013800-185016200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:185013800-185016600	Active TSS	GM12878-XiMat	blood
18	chr1:185013800-185017000	Active TSS	NHLF	lung
19	chr1:185014000-185014200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
20	chr1:185014000-185014200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:185014000-185014200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:185014000-185014200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr1:185014000-185014200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:185014000-185014200	Enhancers	Primary T cells from cord blood	blood
25	chr1:185014000-185014200	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:185014000-185014200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:185014000-185014200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr1:185014000-185014200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:185014000-185014200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:185014000-185014200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:185014000-185014200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr1:185014000-185014200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:185014000-185014200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:185014000-185014200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:185014000-185014200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:185014000-185014200	Enhancers	Fetal Heart	heart
37	chr1:185014000-185014200	Flanking Active TSS	Fetal Stomach	stomach
38	chr1:185014000-185014200	Enhancers	Stomach Mucosa	stomach
39	chr1:185014000-185014200	Flanking Active TSS	A549	lung
40	chr1:185014000-185014200	Enhancers	HSMMtube	muscle
41	chr1:185014000-185014200	Enhancers	HUVEC	blood vessel
42	chr1:185014000-185014200	Flanking Active TSS	Osteobl	bone
43	chr1:185014000-185014400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:185014000-185014400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:185014000-185014400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr1:185014000-185014400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr1:185014000-185014400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr1:185014000-185014400	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr1:185014000-185014400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr1:185014000-185014400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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