Variant report

Variant	rs3757792
Chromosome Location	chr7:127226535-127226536
allele	C/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	JUN	chr7:127224806-127227054	K562	blood:	n/a	chr7:127225673-127225682 chr7:127225672-127225685
2	USF2	chr7:127226433-127226606	H1-hESC	embryonic stem cell:	n/a	n/a
3	NR2F2	chr7:127224924-127226631	K562	blood:	n/a	n/a
4	POLR2A	chr7:127225215-127226615	HepG2	liver:	n/a	n/a
5	USF2	chr7:127226524-127226556	HepG2	liver:	n/a	n/a
6	MAZ	chr7:127225114-127226685	IMR90	lung:	n/a	chr7:127225301-127225311 chr7:127225576-127225585 chr7:127225255-127225264
7	POLR2A	chr7:127226440-127226554	GM12878	blood:	n/a	n/a
8	CBX3	chr7:127225184-127226559	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
2	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:
3	chr7:127029421..127032644-chr7:127225849..127230043,4	K562	blood:
4	chr7:127226125..127229974-chr7:127289784..127293571,8	MCF-7	breast:
5	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
6	chr7:127224949..127227429-chr7:127232952..127234995,2	MCF-7	breast:
7	chr7:127030702..127032822-chr7:127225677..127228410,2	K562	blood:
8	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:

Variant related genes	Relation type
ARF5	TF binding region
GCC1	TF binding region
FSCN3	TF binding region
ENSG00000197157	Chromatin interaction
ENSG00000048405	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000240790	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17730300	1.00[AFR][1000 genomes]
rs17867847	1.00[AFR][1000 genomes]
rs3757790	0.82[ASN][1000 genomes]
rs3757791	0.82[ASN][1000 genomes]
rs3779536	0.82[ASN][1000 genomes]
rs56910747	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60535548	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73720857	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127225800-127226600	ZNF genes & repeats	K562	blood
2	chr7:127226000-127226600	Enhancers	Pancreas	Pancrea
3	chr7:127226000-127226600	Enhancers	HepG2	liver
4	chr7:127226000-127227600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:127226000-127227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:127226000-127227600	Weak transcription	Lung	lung
7	chr7:127226000-127227800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:127226000-127227800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:127226000-127228000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:127226000-127228000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:127226200-127226600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:127226200-127226600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:127226200-127226600	Enhancers	Brain Substantia Nigra	brain
14	chr7:127226200-127226600	Enhancers	Colon Smooth Muscle	Colon
15	chr7:127226200-127226600	Enhancers	Placenta	Placenta
16	chr7:127226200-127226800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:127226200-127226800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:127226200-127227000	Enhancers	HMEC	breast
19	chr7:127226200-127227000	Enhancers	NHEK	skin
20	chr7:127226200-127227400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:127226200-127227400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:127226200-127227400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:127226200-127227400	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:127226200-127227400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr7:127226200-127227600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:127226200-127227600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:127226200-127227600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:127226200-127227600	Weak transcription	Primary B cells from cord blood	blood
29	chr7:127226200-127227600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:127226200-127227600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:127226200-127227600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:127226200-127227600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:127226200-127227600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:127226200-127227600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:127226200-127227600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:127226200-127227600	Weak transcription	Fetal Intestine Large	intestine
37	chr7:127226200-127227600	Weak transcription	Fetal Intestine Small	intestine
38	chr7:127226200-127227600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:127226200-127227600	Weak transcription	Fetal Stomach	stomach
40	chr7:127226200-127227600	Weak transcription	Psoas Muscle	Psoas
41	chr7:127226200-127227600	Weak transcription	Right Ventricle	heart
42	chr7:127226200-127227600	Weak transcription	Stomach Mucosa	stomach
43	chr7:127226200-127227600	Weak transcription	GM12878-XiMat	blood
44	chr7:127226200-127227600	Weak transcription	HSMM	muscle
45	chr7:127226200-127227600	Weak transcription	HUVEC	blood vessel
46	chr7:127226200-127227600	Weak transcription	NHLF	lung
47	chr7:127226200-127227600	Weak transcription	Osteobl	bone
48	chr7:127226200-127227800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:127226200-127227800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:127226200-127227800	Weak transcription	Aorta	Aorta

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