Variant report

Variant	rs57153401
Chromosome Location	chr7:6264669-6264670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10249091	0.94[EUR][1000 genomes]
rs10281120	0.94[EUR][1000 genomes]
rs12666407	0.87[EUR][1000 genomes]
rs12667859	0.87[EUR][1000 genomes]
rs12671407	0.94[EUR][1000 genomes]
rs1964219	0.94[EUR][1000 genomes]
rs2158639	0.87[EUR][1000 genomes]
rs3750065	0.94[EUR][1000 genomes]
rs3828952	0.87[EUR][1000 genomes]
rs57081447	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9791591	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6229400-6270600	Weak transcription	Gastric	stomach
2	chr7:6240800-6265400	Weak transcription	HSMM	muscle
3	chr7:6241000-6265200	Weak transcription	Fetal Stomach	stomach
4	chr7:6241200-6265600	Weak transcription	Fetal Intestine Small	intestine
5	chr7:6249600-6265800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:6249800-6265400	Weak transcription	HSMMtube	muscle
7	chr7:6249800-6265600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:6254600-6267800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:6258000-6265400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:6258000-6266000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:6258400-6265600	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:6259200-6265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:6259400-6265600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:6259400-6276800	Weak transcription	Aorta	Aorta
15	chr7:6260000-6265800	Weak transcription	NHEK	skin
16	chr7:6261200-6265600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:6261200-6267200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:6261600-6265600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:6261600-6265600	Weak transcription	Hela-S3	cervix
20	chr7:6261600-6265600	Weak transcription	NH-A	brain
21	chr7:6261600-6268400	Weak transcription	Primary T cells from cord blood	blood
22	chr7:6261800-6265400	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:6261800-6265600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:6261800-6265600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:6262000-6265400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:6262000-6265400	Weak transcription	Adipose Nuclei	Adipose
27	chr7:6262000-6265400	Weak transcription	Placenta	Placenta
28	chr7:6262000-6265400	Weak transcription	Right Atrium	heart
29	chr7:6262000-6265400	Weak transcription	K562	blood
30	chr7:6262000-6265600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:6262000-6265800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:6262000-6265800	Weak transcription	Psoas Muscle	Psoas
33	chr7:6262000-6265800	Weak transcription	Right Ventricle	heart
34	chr7:6262000-6265800	Weak transcription	Osteobl	bone
35	chr7:6262000-6266000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:6262000-6267000	Weak transcription	Brain Anterior Caudate	brain
37	chr7:6262000-6267600	Weak transcription	GM12878-XiMat	blood
38	chr7:6262000-6269400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:6262000-6270600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:6262200-6265400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:6262200-6265400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:6262200-6265400	Weak transcription	NHDF-Ad	bronchial
43	chr7:6262200-6265600	Weak transcription	NHLF	lung
44	chr7:6262200-6268000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr7:6262200-6270600	Weak transcription	Lung	lung
46	chr7:6262400-6265400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:6262800-6265400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:6263600-6264800	Enhancers	Fetal Heart	heart
49	chr7:6263600-6264800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr7:6263600-6269800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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