Variant report

Variant	rs3757790
Chromosome Location	chr7:127233279-127233280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127232450-127233302	K562	blood:	n/a	n/a
2	POLR2A	chr7:127232439-127233495	K562	blood:	n/a	n/a
3	POLR2A	chr7:127232802-127233377	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:127232638-127235426	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr7:127232487-127233696	K562	blood:	n/a	n/a
6	POLR2A	chr7:127232444-127234468	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:127232816-127233532	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:127232404-127233356	K562	blood:	n/a	n/a
9	POLR2A	chr7:127232783-127233281	U87	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127232149..127233978-chr7:127290816..127293700,2	MCF-7	breast:
2	chr7:127224949..127227429-chr7:127232952..127234995,2	MCF-7	breast:
3	chr7:127232542..127235287-chr7:127252972..127255661,2	K562	blood:
4	chr7:127227908..127231054-chr7:127231482..127236620,11	MCF-7	breast:
5	chr7:127231884..127233633-chr7:127334076..127336132,2	K562	blood:
6	chr7:127232880..127234701-chr7:127291672..127293969,3	K562	blood:

No data

Variant related genes	Relation type
FSCN3	TF binding region
ENSG00000004059	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000106331	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11973012	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs11976330	0.89[CHB][hapmap]
rs3735640	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3757791	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757792	0.82[ASN][1000 genomes]
rs3779536	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55889918	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56910747	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60535548	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73720857	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7778682	0.90[CHB][hapmap]
rs7799837	1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127229600-127241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:127229800-127233800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr7:127229800-127234000	Strong transcription	Fetal Brain Female	brain
4	chr7:127229800-127237400	Weak transcription	Right Atrium	heart
5	chr7:127230000-127233800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:127230000-127233800	Strong transcription	Fetal Intestine Small	intestine
7	chr7:127230000-127234000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:127230000-127234000	Strong transcription	Fetal Stomach	stomach
9	chr7:127230000-127234400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:127230200-127234000	Weak transcription	Fetal Brain Male	brain
11	chr7:127230400-127233600	Strong transcription	Fetal Muscle Leg	muscle
12	chr7:127230400-127233600	Weak transcription	K562	blood
13	chr7:127230400-127233800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr7:127230600-127233400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:127230600-127233400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:127230800-127233400	Strong transcription	Primary B cells from cord blood	blood
17	chr7:127230800-127233400	Strong transcription	Thymus	Thymus
18	chr7:127230800-127233600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:127231400-127234600	Weak transcription	A549	lung
20	chr7:127231400-127234600	Weak transcription	GM12878-XiMat	blood
21	chr7:127231400-127234600	Weak transcription	HepG2	liver
22	chr7:127231600-127235200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:127231600-127237000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:127231600-127241000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:127231800-127233400	Weak transcription	Stomach Mucosa	stomach
26	chr7:127231800-127233600	Weak transcription	Psoas Muscle	Psoas
27	chr7:127232000-127233600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:127232000-127233600	Weak transcription	Brain Angular Gyrus	brain
29	chr7:127232000-127233600	Weak transcription	Brain Anterior Caudate	brain
30	chr7:127232000-127233600	Weak transcription	Colonic Mucosa	Colon
31	chr7:127232000-127233600	Weak transcription	Fetal Kidney	kidney
32	chr7:127232000-127233600	Weak transcription	Right Ventricle	heart
33	chr7:127232000-127233600	Weak transcription	HSMMtube	muscle
34	chr7:127232000-127233800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:127232000-127233800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:127232000-127233800	Weak transcription	Ovary	ovary
37	chr7:127232000-127233800	Weak transcription	Dnd41	blood
38	chr7:127232000-127233800	Weak transcription	Hela-S3	cervix
39	chr7:127232000-127234000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:127232000-127234000	Weak transcription	Lung	lung
41	chr7:127232000-127234400	Weak transcription	Esophagus	oesophagus
42	chr7:127232000-127234600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:127232000-127235000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:127232000-127235000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:127232000-127235000	Weak transcription	HUVEC	blood vessel
46	chr7:127232000-127235200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:127232000-127235200	Weak transcription	Gastric	stomach
48	chr7:127232000-127235400	Weak transcription	NHLF	lung
49	chr7:127232000-127235600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:127232000-127235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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