Variant report

Variant	rs2597177
Chromosome Location	chr17:46060529-46060530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46059324..46060988-chr17:46072886..46074835,2	K562	blood:
2	chr17:46053682..46056585-chr17:46059998..46062709,2	K562	blood:
3	chr17:46059948..46063060-chr17:46063175..46066138,4	MCF-7	breast:
4	chr17:46058631..46063478-chr17:46064617..46070061,8	K562	blood:
5	chr17:46058567..46062223-chr17:46094441..46097254,3	K562	blood:
6	chr17:46033345..46035913-chr17:46058791..46060752,2	MCF-7	breast:
7	chr17:46059865..46061717-chr17:46063064..46066103,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264701	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2256020	0.83[CHB][hapmap]
rs2525083	0.88[CHB][hapmap]
rs2525097	0.82[CHB][hapmap]
rs2597166	0.96[ASN][1000 genomes]
rs2597178	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs2737	0.87[CHB][hapmap]
rs736387	0.87[CHB][hapmap]

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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2597177	ATP6V0A1	cis	parietal	SCAN
rs2597177	SKAP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46049800-46066600	Weak transcription	Small Intestine	intestine
2	chr17:46050200-46061800	Strong transcription	NHLF	lung
3	chr17:46050200-46062000	Strong transcription	NHEK	skin
4	chr17:46050200-46062200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr17:46050200-46062800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:46050200-46063000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr17:46050200-46063400	Strong transcription	Fetal Stomach	stomach
8	chr17:46050400-46060800	Strong transcription	Ovary	ovary
9	chr17:46050400-46061000	Strong transcription	A549	lung
10	chr17:46050400-46061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr17:46050400-46061400	Strong transcription	HepG2	liver
12	chr17:46050400-46062000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:46050400-46062200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr17:46050400-46063000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr17:46050600-46061800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr17:46050600-46062200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:46050600-46062200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr17:46050800-46060800	Strong transcription	Lung	lung
19	chr17:46050800-46061000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr17:46050800-46061200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr17:46050800-46061600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:46050800-46061600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr17:46050800-46061800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:46050800-46062000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr17:46050800-46062000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr17:46050800-46062200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:46050800-46062400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:46050800-46062600	Strong transcription	Fetal Intestine Small	intestine
29	chr17:46050800-46062800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:46050800-46063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:46050800-46063000	Strong transcription	Fetal Muscle Leg	muscle
32	chr17:46051000-46060800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:46051000-46061000	Strong transcription	Rectal Smooth Muscle	rectum
34	chr17:46051000-46061800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr17:46051000-46062000	Strong transcription	Primary B cells from cord blood	blood
36	chr17:46051000-46062200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:46051000-46062200	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr17:46051000-46063000	Strong transcription	Primary T cells from cord blood	blood
39	chr17:46051000-46063000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr17:46051200-46060600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr17:46051200-46060800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr17:46051200-46061000	Strong transcription	Brain Substantia Nigra	brain
43	chr17:46051200-46061000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:46051200-46061200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr17:46051200-46062000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:46051400-46061200	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr17:46051800-46062400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:46054200-46063000	Strong transcription	Thymus	Thymus
49	chr17:46054600-46061800	Strong transcription	Pancreas	Pancrea
50	chr17:46054800-46061000	Strong transcription	Esophagus	oesophagus

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