Variant report

Variant	rs191809659
Chromosome Location	chr1:151512461-151512462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:245)
CpG islands
(count:0)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP4	chr1:151512164-151513016	H1-hESC	embryonic stem cell:	n/a	chr1:151512730-151512746 chr1:151512710-151512726 chr1:151512754-151512770 chr1:151512657-151512673 chr1:151512655-151512671
2	RCOR1	chr1:151512123-151512651	K562	blood:	n/a	n/a
3	POLR2A	chr1:151511956-151513362	MCF-7	breast:	n/a	n/a
4	BRCA1	chr1:151511993-151513323	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:151511782-151514240	Hela-S3	cervix:	n/a	n/a
6	RCOR1	chr1:151511601-151513498	IMR90	lung:	n/a	n/a
7	RAD21	chr1:151512142-151513100	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr1:151512190-151513240	IMR90	lung:	n/a	n/a
9	MAX	chr1:151512107-151513074	K562	blood:	n/a	n/a
10	SRF	chr1:151511772-151512981	ECC-1	luminal epithelium:	n/a	chr1:151512198-151512213 chr1:151512167-151512180 chr1:151512164-151512182 chr1:151512201-151512212 chr1:151512197-151512214 chr1:151512197-151512215 chr1:151512168-151512182 chr1:151512165-151512183
11	POLR2A	chr1:151512168-151513029	GM18951	blood:	n/a	n/a
12	POLR2A	chr1:151512458-151513002	HepG2	liver:	n/a	n/a
13	CTCF	chr1:151512400-151512550	HMF	breast:	n/a	n/a
14	TAF1	chr1:151511839-151513954	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr1:151511736-151513947	MCF-7	breast:	n/a	n/a
16	ELF1	chr1:151511856-151513974	MCF-7	breast:	n/a	n/a
17	GATA3	chr1:151511890-151513039	T-47D	breast:	n/a	chr1:151512260-151512267
18	RAD21	chr1:151512344-151512584	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:151512194-151513009	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:151511987-151513185	MCF-7	breast:	n/a	n/a
21	TAL1	chr1:151512259-151512518	K562	blood:	n/a	n/a
22	MAZ	chr1:151511877-151513485	Hela-S3	cervix:	n/a	chr1:151513413-151513423
23	MAX	chr1:151512126-151512630	H1-hESC	embryonic stem cell:	n/a	n/a
24	IRF1	chr1:151512251-151513017	K562	blood:	n/a	chr1:151512655-151512669 chr1:151512730-151512744
25	RAD21	chr1:151511955-151512901	Hela-S3	cervix:	n/a	n/a
26	ARID3A	chr1:151512409-151512940	HepG2	liver:	n/a	chr1:151512831-151512846
27	HDAC2	chr1:151511855-151513853	MCF-7	breast:	n/a	chr1:151512333-151512341 chr1:151512133-151512141
28	JUND	chr1:151511932-151513066	K562	blood:	n/a	chr1:151512640-151512651
29	JUN	chr1:151512175-151512516	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:151512417-151513161	HUVEC	blood vessel:	n/a	n/a
31	TAF1	chr1:151512147-151513253	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr1:151512460-151512610	HMEC	breast:	n/a	n/a
33	POLR2A	chr1:151512025-151513218	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:151511966-151513318	PBDE	blood:	n/a	n/a
35	CTCF	chr1:151512380-151512530	HAc	cerebellar:	n/a	n/a
36	PML	chr1:151511826-151513205	MCF-7	breast:	n/a	n/a
37	POLR2A	chr1:151512274-151513033	HEK293	kidney:	n/a	n/a
38	MXI1	chr1:151511925-151514129	SK-N-SH	brain:	n/a	n/a
39	CHD1	chr1:151511796-151515943	IMR90	lung:	n/a	n/a
40	SP1	chr1:151512145-151513051	HepG2	liver:	n/a	chr1:151512657-151512669 chr1:151512732-151512744 chr1:151512733-151512743 chr1:151512657-151512669 chr1:151512733-151512742 chr1:151512734-151512743 chr1:151512733-151512742 chr1:151512733-151512743 chr1:151512732-151512744
41	MAFF	chr1:151512157-151512655	HepG2	liver:	n/a	n/a
42	REST	chr1:151512196-151513149	A549	lung:	n/a	chr1:151512243-151512256
43	SRF	chr1:151511617-151513275	HCT-116	colon:	n/a	chr1:151512198-151512213 chr1:151512167-151512180 chr1:151512164-151512182 chr1:151512201-151512212 chr1:151512197-151512214 chr1:151512197-151512215 chr1:151512168-151512182 chr1:151512165-151512183
44	POLR2A	chr1:151512193-151512466	GM12878	blood:	n/a	n/a
45	JUND	chr1:151512245-151513014	HepG2	liver:	n/a	chr1:151512640-151512651
46	FOS	chr1:151512037-151512658	MCF10A-Er-Src	breast:	n/a	chr1:151512640-151512651
47	ZC3H11A	chr1:151512001-151512651	K562	blood:	n/a	n/a
48	MXI1	chr1:151512002-151513268	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr1:151512437-151513097	GM12892	blood:	n/a	n/a
50	SIX5	chr1:151511977-151513090	A549	lung:	n/a	n/a

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151512163..151513137-chr6:30712154..30712827,2	Hela-S3	cervix:
2	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
3	chr1:151511858..151512778-chr5:10353074..10353954,2	Hela-S3	cervix:
4	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
5	chr1:151494437..151499363-chr1:151510633..151514422,7	MCF-7	breast:
6	chr1:151511788..151512678-chr11:104838165..104838828,2	Hela-S3	cervix:
7	chr1:151512428..151513209-chr6:30710651..30711197,2	Hela-S3	cervix:
8	chr1:31191630..31192158-chr1:151512114..151512845,2	Hela-S3	cervix:
9	chr1:151512379..151513148-chr12:13043860..13044815,2	Hela-S3	cervix:
10	chr1:151512152..151513064-chr17:48943159..48943923,3	Hela-S3	cervix:
11	chr1:151511929..151514676-chr5:16935884..16938127,2	MCF-7	breast:
12	chr1:151510867..151515069-chr1:151533037..151539348,7	MCF-7	breast:
13	chr1:151512227..151513137-chr15:59397018..59397782,2	Hela-S3	cervix:
14	chr1:151512146..151512974-chr9:132244706..132245666,2	Hela-S3	cervix:
15	chr1:151510723..151515515-chr1:151802413..151805096,5	MCF-7	breast:
16	chr1:151512312..151513161-chr4:106068054..106068951,2	Hela-S3	cervix:
17	chr1:151511342..151513361-chr1:151529767..151532080,2	MCF-7	breast:
18	chr1:151510621..151512625-chr1:151802601..151805059,2	MCF-7	breast:
19	chr1:151298012..151299962-chr1:151511144..151512744,2	K562	blood:
20	chr1:151512225..151513208-chr1:205600494..205601192,2	Hela-S3	cervix:
21	chr1:151379379..151381233-chr1:151511239..151513051,2	MCF-7	breast:
22	chr1:151512395..151512984-chr17:8076255..8077089,2	Hela-S3	cervix:
23	chr1:151511592..151513482-chr9:113016876..113019727,2	MCF-7	breast:
24	chr1:151510726..151515686-chr1:151583230..151586215,6	MCF-7	breast:
25	chr1:151512334..151513279-chr10:94608004..94608822,2	Hela-S3	cervix:
26	chr1:151512313..151514089-chr3:39423180..39426141,2	MCF-7	breast:
27	chr1:151437130..151438728-chr1:151510858..151512482,2	MCF-7	breast:
28	chr1:151499502..151502122-chr1:151511648..151513316,2	MCF-7	breast:
29	chr1:151512166..151513141-chr14:103987052..103987573,2	Hela-S3	cervix:
30	chr1:151512255..151513141-chr6:41888350..41888892,2	Hela-S3	cervix:
31	chr1:151372028..151374418-chr1:151511841..151514665,2	MCF-7	breast:
32	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
33	chr1:151512315..151513514-chr15:65596770..65597736,3	Hela-S3	cervix:
34	chr1:151510509..151513919-chr1:151688057..151691918,3	MCF-7	breast:
35	chr1:151510534..151515854-chr1:151533093..151539013,11	MCF-7	breast:
36	chr1:151509848..151514263-chr1:151581077..151585541,5	MCF-7	breast:
37	chr1:151512325..151513409-chr14:96967489..96968213,3	Hela-S3	cervix:
38	chr1:151512194..151512839-chr16:56642047..56642602,2	Hela-S3	cervix:
39	chr1:151512446..151512947-chr11:68451882..68452435,2	Hela-S3	cervix:
40	chr1:151430095..151434593-chr1:151511133..151513913,5	K562	blood:
41	chr1:151512250..151513230-chr11:118888986..118889619,2	Hela-S3	cervix:
42	chr1:151254308..151256785-chr1:151512305..151514288,3	MCF-7	breast:
43	chr1:151429106..151432636-chr1:151510898..151514410,7	MCF-7	breast:
44	chr1:151431826..151434593-chr1:151511133..151514053,3	K562	blood:
45	chr1:151511022..151513078-chr1:151762186..151764520,2	MCF-7	breast:
46	chr1:151511637..151514253-chr10:74032442..74033943,2	MCF-7	breast:
47	chr1:151511607..151513918-chr17:57914768..57918620,3	MCF-7	breast:
48	chr1:151512354..151513189-chr2:53994612..53995352,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000232536	TF binding region
TUFT1	TF binding region
ENSG00000158711	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000259802	Chromatin interaction
ENSG00000090060	Chromatin interaction
ENSG00000118181	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000162510	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000124641	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000138190	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000144659	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000115239	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000013588	Chromatin interaction
ENSG00000157456	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000143942	Chromatin interaction
ENSG00000145555	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000125148	Chromatin interaction
ENSG00000069482	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000136810	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000196655	Chromatin interaction
ENSG00000159409	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000145495	Chromatin interaction
ENSG00000168769	Chromatin interaction
ENSG00000261334	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000200156	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv3370365	chr1:151512341-151512601	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	50 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	chr1:151503400-151512800	Weak transcription	Aorta	Aorta
2	chr1:151510800-151512800	Weak transcription	Gastric	stomach
3	chr1:151511600-151512600	Enhancers	Fetal Thymus	thymus
4	chr1:151511600-151512600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:151511600-151512600	Flanking Active TSS	Hela-S3	cervix
6	chr1:151511600-151512800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:151511800-151512600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:151511800-151512600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:151511800-151512600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:151511800-151512600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:151511800-151512600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:151511800-151512600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:151511800-151512600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:151511800-151512600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:151511800-151512600	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr1:151511800-151512600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr1:151511800-151512600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:151511800-151512600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:151511800-151512600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr1:151511800-151512600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr1:151511800-151512600	Flanking Active TSS	A549	lung
22	chr1:151511800-151512600	Flanking Active TSS	HSMM	muscle
23	chr1:151511800-151512600	Flanking Active TSS	K562	blood
24	chr1:151511800-151512600	Flanking Active TSS	NHLF	lung
25	chr1:151511800-151512800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr1:151511800-151512800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:151511800-151513200	Active TSS	Fetal Brain Female	brain
28	chr1:151511800-151513600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr1:151511800-151513800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr1:151512000-151512600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:151512000-151512600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:151512000-151512600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:151512000-151512600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:151512000-151512600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr1:151512000-151512600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:151512000-151512600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:151512000-151512600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr1:151512000-151512600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:151512000-151512600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:151512000-151512600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:151512000-151512600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr1:151512000-151512600	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr1:151512000-151512600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr1:151512000-151512600	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr1:151512000-151512600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr1:151512000-151512600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:151512000-151512600	Flanking Active TSS	Left Ventricle	heart
48	chr1:151512000-151512600	Enhancers	Lung	lung
49	chr1:151512000-151512600	Flanking Active TSS	Thymus	Thymus
50	chr1:151512000-151512600	Enhancers	Spleen	Spleen

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