Variant report

Variant	rs76338952
Chromosome Location	chr1:94312560-94312561
allele	C/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	CREB1	chr1:94312542-94313367	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:94311717-94313891	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:94311225-94313897	PFSK-1	brain:	n/a	n/a
4	MAX	chr1:94311665-94313906	HepG2	liver:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
5	POLR2A	chr1:94311700-94313828	HEK293	kidney:	n/a	n/a
6	MAX	chr1:94311741-94313908	K562	blood:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
7	SIN3AK20	chr1:94312520-94313366	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr1:94310836-94314061	H1-neurons	neurons:	n/a	chr1:94313411-94313429 chr1:94313382-94313392 chr1:94313624-94313638 chr1:94312132-94312145
9	TCF7L2	chr1:94311274-94313955	Hela-S3	cervix:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
10	ZBTB7A	chr1:94311557-94314008	ECC-1	luminal epithelium:	n/a	n/a
11	TAF1	chr1:94312544-94313329	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZBTB7A	chr1:94312556-94313749	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr1:94311075-94313288	Hela-S3	cervix:	n/a	n/a
14	MAX	chr1:94311060-94313919	ECC-1	luminal epithelium:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
15	EP300	chr1:94312472-94314118	ECC-1	luminal epithelium:	n/a	chr1:94312761-94312770 chr1:94312534-94312550 chr1:94313265-94313279 chr1:94314012-94314022
16	HMGN3	chr1:94311715-94313735	K562	blood:	n/a	n/a
17	POLR2A	chr1:94311707-94313841	MCF-7	breast:	n/a	n/a
18	POLR2A	chr1:94311257-94313920	K562	blood:	n/a	n/a
19	POLR2A	chr1:94312460-94313254	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:94311092-94313903	Hela-S3	cervix:	n/a	n/a
21	TCF7L2	chr1:94311734-94313844	HCT-116	colon:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
22	HEY1	chr1:94312503-94313823	HepG2	liver:	n/a	chr1:94313075-94313090
23	POLR2A	chr1:94311714-94313312	A549	lung:	n/a	n/a
24	POLR2A	chr1:94311807-94313257	Gliobla	brain:	n/a	n/a
25	POLR2A	chr1:94311627-94313301	GM12892	blood:	n/a	n/a
26	POLR2A	chr1:94311363-94313868	Hela-S3	cervix:	n/a	n/a
27	ZBTB7A	chr1:94312538-94312992	K562	blood:	n/a	n/a
28	POLR2A	chr1:94311042-94313877	ECC-1	luminal epithelium:	n/a	n/a
29	HEY1	chr1:94311667-94313380	K562	blood:	n/a	chr1:94313075-94313090 chr1:94312190-94312205 chr1:94312315-94312330 chr1:94312135-94312150 chr1:94311900-94311915
30	TAF1	chr1:94312518-94313248	HepG2	liver:	n/a	n/a
31	TAF1	chr1:94312526-94314020	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr1:94311711-94313293	GM12878	blood:	n/a	n/a
33	SIN3A	chr1:94311665-94313931	H1-hESC	embryonic stem cell:	n/a	chr1:94312341-94312350 chr1:94311894-94311907 chr1:94311896-94311907 chr1:94312318-94312329 chr1:94311846-94311857
34	RUNX3	chr1:94311578-94314005	GM12878	blood:	n/a	chr1:94313331-94313348
35	POLR2A	chr1:94312525-94313957	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr1:94311570-94313832	GM12878	blood:	n/a	n/a
37	MAX	chr1:94311211-94313920	NB4	blood:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
38	HCFC1	chr1:94311620-94313922	K562	blood:	n/a	n/a
39	RCOR1	chr1:94311012-94314184	IMR90	lung:	n/a	n/a
40	EP300	chr1:94312484-94314029	SK-N-SH	brain:	n/a	chr1:94312761-94312770 chr1:94312534-94312550 chr1:94313265-94313279 chr1:94314012-94314022
41	SIN3A	chr1:94312229-94313277	GM12878	blood:	n/a	chr1:94312341-94312350 chr1:94312318-94312329
42	POLR2A	chr1:94311218-94313823	IMR90	lung:	n/a	n/a
43	UBTF	chr1:94311548-94313823	K562	blood:	n/a	n/a
44	POLR2A	chr1:94312554-94313232	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr1:94312527-94314066	A549	lung:	n/a	chr1:94313560-94313569
46	MAZ	chr1:94311334-94313965	K562	blood:	n/a	chr1:94313560-94313569
47	MAZ	chr1:94311494-94313900	Hela-S3	cervix:	n/a	chr1:94313560-94313569
48	CHD2	chr1:94311728-94313290	HepG2	liver:	n/a	n/a
49	TCF12	chr1:94311061-94314095	ECC-1	luminal epithelium:	n/a	chr1:94312315-94312325
50	POLR2A	chr1:94312530-94313246	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94145898..94148493-chr1:94311257..94313086,3	MCF-7	breast:
2	chr1:94031565..94034150-chr1:94311941..94313768,2	MCF-7	breast:
3	chr1:94032781..94034755-chr1:94312060..94314320,2	K562	blood:
4	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
5	chr1:94311932..94312926-chr1:173793602..173794332,2	Hela-S3	cervix:
6	chr1:94311883..94312816-chr6:41068705..41069705,3	Hela-S3	cervix:
7	chr1:93544000..93546020-chr1:94311349..94313397,2	MCF-7	breast:
8	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
9	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
10	chr1:94146501..94148043-chr1:94311466..94313377,2	MCF-7	breast:
11	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
12	chr1:94312249..94313217-chr1:155197097..155198051,2	Hela-S3	cervix:
13	chr1:94311158..94313376-chr1:94883814..94886511,2	K562	blood:
14	chr1:93643262..93645748-chr1:94311384..94313517,2	K562	blood:
15	chr1:94312118..94313117-chr12:53773612..53774367,2	Hela-S3	cervix:
16	chr1:93643769..93645748-chr1:94311324..94312884,2	K562	blood:
17	chr1:94312180..94314378-chr1:94343204..94344804,3	K562	blood:
18	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
19	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
20	chr1:45196360..45196880-chr1:94311880..94312608,2	Hela-S3	cervix:
21	chr1:94311309..94313221-chr1:94336029..94338174,3	K562	blood:
22	chr1:94311636..94312585-chr10:112678360..112678969,2	Hela-S3	cervix:
23	chr1:94312026..94313686-chr1:94337188..94339061,2	MCF-7	breast:
24	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
25	chr1:94312529..94314745-chr1:94335727..94337365,2	MCF-7	breast:
26	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
27	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

Variant related genes	Relation type
ENSG00000260464	TF binding region
BCAR3	TF binding region
ENSG00000137936	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000161912	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000185591	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	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
3	esv3438948	chr1:94311389-94313937	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94311200-94312600	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr1:94311200-94312600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:94311200-94312800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:94311200-94313800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:94311200-94313800	Active TSS	Lung	lung
6	chr1:94311200-94314000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:94311200-94314000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:94311200-94314000	Active TSS	Ovary	ovary
9	chr1:94311400-94312600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:94311400-94313200	Active TSS	Thymus	Thymus
11	chr1:94311400-94313400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr1:94311400-94313800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:94311400-94313800	Active TSS	NH-A	brain
14	chr1:94311400-94314000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:94311400-94314000	Active TSS	Aorta	Aorta
16	chr1:94311400-94314000	Active TSS	Colonic Mucosa	Colon
17	chr1:94311400-94314000	Active TSS	Fetal Muscle Trunk	muscle
18	chr1:94311400-94314000	Active TSS	Psoas Muscle	Psoas
19	chr1:94311400-94314000	Active TSS	Right Ventricle	heart
20	chr1:94311400-94314000	Active TSS	NHDF-Ad	bronchial
21	chr1:94311600-94313400	Active TSS	Fetal Brain Female	brain
22	chr1:94311600-94313600	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr1:94311600-94313600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr1:94311600-94313600	Active TSS	Colon Smooth Muscle	Colon
25	chr1:94311600-94313600	Active TSS	Esophagus	oesophagus
26	chr1:94311600-94313600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:94311600-94313800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:94311600-94313800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:94311600-94313800	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:94311600-94313800	Active TSS	Brain Hippocampus Middle	brain
31	chr1:94311600-94313800	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr1:94311600-94313800	Active TSS	Fetal Kidney	kidney
33	chr1:94311600-94313800	Active TSS	Gastric	stomach
34	chr1:94311600-94313800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr1:94311600-94313800	Active TSS	Small Intestine	intestine
36	chr1:94311600-94313800	Active TSS	A549	lung
37	chr1:94311600-94313800	Active TSS	Hela-S3	cervix
38	chr1:94311600-94314000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:94311600-94314000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:94311600-94314000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:94311600-94314000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:94311600-94314000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:94311600-94314000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:94311600-94314000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:94311600-94314000	Active TSS	Brain Anterior Caudate	brain
46	chr1:94311600-94314000	Active TSS	Brain Germinal Matrix	brain
47	chr1:94311600-94314000	Active TSS	Fetal Heart	heart
48	chr1:94311600-94314000	Active TSS	Left Ventricle	heart
49	chr1:94311600-94314000	Active TSS	Pancreas	Pancrea
50	chr1:94311600-94314200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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