Variant report

Variant	rs6803700
Chromosome Location	chr3:157155953-157155954
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	E2F6	chr3:157155118-157156183	A549	lung:	n/a	chr3:157156150-157156157 chr3:157155908-157155917 chr3:157156150-157156157 chr3:157155909-157155916 chr3:157156150-157156157 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155906-157155920 chr3:157155905-157155917
2	MAX	chr3:157155087-157156173	ECC-1	luminal epithelium:	n/a	n/a
3	RCOR1	chr3:157154051-157156393	IMR90	lung:	n/a	n/a
4	POLR2A	chr3:157155037-157156147	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr3:157155055-157156520	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr3:157154220-157161217	HUVEC	blood vessel:	n/a	n/a
7	TCF12	chr3:157155437-157156041	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr3:157155076-157155977	MCF10A-Er-Src	breast:	n/a	n/a
9	MXI1	chr3:157154085-157156888	IMR90	lung:	n/a	n/a
10	MAX	chr3:157155076-157155955	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr3:157155164-157156097	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr3:157155344-157156135	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr3:157154329-157156447	H1-neurons	neurons:	n/a	chr3:157155725-157155738 chr3:157156301-157156311 chr3:157156195-157156215
14	POLR2A	chr3:157154436-157156114	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr3:157154231-157157688	HUVEC	blood vessel:	n/a	n/a
16	E2F6	chr3:157155751-157155964	K562	blood:	n/a	chr3:157155908-157155917 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155906-157155920 chr3:157155905-157155917
17	TAF1	chr3:157155142-157156075	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr3:157155571-157155986	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F6	chr3:157155225-157156113	K562	blood:	n/a	chr3:157155908-157155917 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155906-157155920 chr3:157155905-157155917
20	MAX	chr3:157155117-157156106	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr3:157155454-157155974	SK-N-SH_RA	brain:	n/a	n/a
22	HA-E2F1	chr3:157155169-157156222	MCF-7	breast:	n/a	chr3:157156150-157156157 chr3:157155908-157155917 chr3:157156150-157156157 chr3:157155909-157155916 chr3:157156150-157156157 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155906-157155920 chr3:157155905-157155917
23	POLR2A	chr3:157155409-157156252	K562	blood:	n/a	n/a
24	MAX	chr3:157155024-157156163	A549	lung:	n/a	n/a
25	TAF1	chr3:157155042-157156132	H1-neurons	neurons:	n/a	n/a
26	BRCA1	chr3:157155721-157156053	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr3:157155029-157156106	SK-N-SH	brain:	n/a	n/a
28	TAF1	chr3:157155156-157155960	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr3:157155079-157156078	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr3:157154415-157156673	SK-N-SH	brain:	n/a	n/a
31	JUND	chr3:157155239-157156044	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr3:157154494-157156099	ProgFib	skin:	n/a	n/a
33	POLR2A	chr3:157155113-157156462	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr3:157155219-157155980	K562	blood:	n/a	n/a
35	HMGN3	chr3:157155205-157155978	K562	blood:	n/a	n/a
36	ZNF263	chr3:157155171-157156177	HEK293-T-REx	kidney:	n/a	n/a
37	REST	chr3:157155306-157156073	HL-60	blood:	n/a	chr3:157155725-157155738
38	MAX	chr3:157155189-157155973	NB4	blood:	n/a	n/a
39	E2F4	chr3:157155670-157156084	MCF10A-Er-Src	breast:	n/a	chr3:157155908-157155917 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155906-157155920 chr3:157155905-157155917
40	SIN3A	chr3:157154592-157156321	H1-hESC	embryonic stem cell:	n/a	chr3:157156200-157156211
41	MAX	chr3:157155015-157156324	ECC-1	luminal epithelium:	n/a	n/a
42	CTBP2	chr3:157155169-157156375	H1-hESC	embryonic stem cell:	n/a	n/a
43	TAF1	chr3:157155134-157156245	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr3:157154238-157163149	HUVEC	blood vessel:	n/a	n/a
45	KAP1	chr3:157154431-157156253	HEK293	kidney:	n/a	n/a
46	POLR2A	chr3:157155111-157156164	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr3:157154445-157156671	H1-hESC	embryonic stem cell:	n/a	n/a
48	TCF7L2	chr3:157155764-157155974	PANC-1	pancreas:	n/a	n/a
49	E2F6	chr3:157155030-157156376	H1-hESC	embryonic stem cell:	n/a	chr3:157156150-157156157 chr3:157156322-157156337 chr3:157155908-157155917 chr3:157156150-157156157 chr3:157155909-157155916 chr3:157156150-157156157 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157156300-157156310 chr3:157155906-157155920 chr3:157155905-157155917
50	MYC	chr3:157154306-157156057	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:157150749..157153721-chr3:157154855..157157411,2	K562	blood:

Variant related genes	Relation type
VEPH1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7641247	1.00[AMR][1000 genomes]
rs7642671	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157154000-157158000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:157154200-157156000	Active TSS	Fetal Stomach	stomach
3	chr3:157154200-157156000	Active TSS	NHDF-Ad	bronchial
4	chr3:157154200-157156200	Active TSS	Brain Germinal Matrix	brain
5	chr3:157154200-157156400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr3:157154200-157156400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr3:157154200-157156400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:157154200-157156400	Active TSS	Fetal Lung	lung
9	chr3:157154200-157156600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:157154200-157156600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:157154200-157157200	Active TSS	HSMM	muscle
12	chr3:157154200-157157400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:157154200-157157800	Active TSS	HSMMtube	muscle
14	chr3:157154400-157156000	Active TSS	Brain Anterior Caudate	brain
15	chr3:157154400-157156000	Active TSS	Brain Cingulate Gyrus	brain
16	chr3:157154400-157156000	Active TSS	Brain Hippocampus Middle	brain
17	chr3:157154400-157156000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr3:157154400-157156200	Active TSS	Fetal Brain Female	brain
19	chr3:157154400-157156400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr3:157154400-157156400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr3:157154400-157156600	Active TSS	Fetal Kidney	kidney
22	chr3:157154400-157157000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr3:157154600-157156000	Active TSS	Brain Substantia Nigra	brain
24	chr3:157154600-157156000	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr3:157154600-157156200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:157154600-157156200	Active TSS	HUVEC	blood vessel
27	chr3:157154600-157156400	Active TSS	Fetal Heart	heart
28	chr3:157154600-157156400	Active TSS	Left Ventricle	heart
29	chr3:157154600-157156600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:157154600-157156600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:157154600-157156600	Active TSS	Colon Smooth Muscle	Colon
32	chr3:157154600-157156600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr3:157154600-157156600	Active TSS	Psoas Muscle	Psoas
34	chr3:157154600-157156800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:157154600-157156800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr3:157154600-157157200	Active TSS	Rectal Smooth Muscle	rectum
37	chr3:157154600-157160800	Transcr. at gene 5' and 3'	Osteobl	bone
38	chr3:157154600-157161000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:157154800-157156200	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr3:157154800-157156200	Active TSS	Aorta	Aorta
41	chr3:157154800-157156400	Active TSS	Right Atrium	heart
42	chr3:157154800-157156800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr3:157155000-157156200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:157155000-157156200	Flanking Active TSS	Right Ventricle	heart
45	chr3:157155000-157156200	Flanking Active TSS	HMEC	breast
46	chr3:157155000-157156400	Active TSS	Ovary	ovary
47	chr3:157155000-157156400	Bivalent Enhancer	Stomach Mucosa	stomach
48	chr3:157155000-157156600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr3:157155000-157156600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr3:157155000-157156600	Active TSS	Brain Inferior Temporal Lobe	brain

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