Variant report

Variant	rs17143586
Chromosome Location	chr7:8177397-8177398
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:8175278..8177805-chr7:8220931..8222819,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11983637	0.97[EUR][1000 genomes]
rs16872626	1.00[EUR][1000 genomes]
rs34500452	1.00[EUR][1000 genomes]
rs7795490	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv949024	chr7:8176301-8522495	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1031226	chr7:8176311-8569811	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv538724	chr7:8176311-8569811	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8150600-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:8152600-8183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:8155800-8185600	Weak transcription	Fetal Heart	heart
4	chr7:8159200-8186600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:8162000-8177400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:8162400-8192800	Weak transcription	Colonic Mucosa	Colon
7	chr7:8166000-8179600	Weak transcription	Right Ventricle	heart
8	chr7:8166000-8179800	Weak transcription	Gastric	stomach
9	chr7:8166000-8180200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:8166000-8180200	Weak transcription	Spleen	Spleen
11	chr7:8166000-8186600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:8167800-8179800	Weak transcription	Lung	lung
13	chr7:8167800-8192200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:8168000-8183200	Weak transcription	Left Ventricle	heart
15	chr7:8168400-8179800	Weak transcription	Pancreas	Pancrea
16	chr7:8168400-8180000	Weak transcription	Fetal Stomach	stomach
17	chr7:8168800-8179800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:8169200-8186600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:8170000-8192000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:8170200-8179800	Weak transcription	Fetal Intestine Small	intestine
21	chr7:8172000-8180000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:8172400-8187400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:8172400-8215800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:8172800-8179800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:8172800-8180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:8173000-8177400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:8173000-8188400	Weak transcription	Primary B cells from cord blood	blood
28	chr7:8174000-8182800	Weak transcription	Adipose Nuclei	Adipose
29	chr7:8174000-8184600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:8174800-8183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:8175200-8180600	Weak transcription	Fetal Thymus	thymus
32	chr7:8175200-8182600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:8175400-8178600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:8175400-8180000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:8175600-8177400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:8175600-8183000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:8175800-8180400	Weak transcription	Primary T cells from cord blood	blood
38	chr7:8176000-8179800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:8176200-8178600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:8176200-8180400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:8176200-8180800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:8176200-8197000	Weak transcription	Stomach Mucosa	stomach
43	chr7:8176400-8200600	Weak transcription	K562	blood
44	chr7:8176800-8178000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:8176800-8183400	Weak transcription	Fetal Brain Male	brain
46	chr7:8177000-8178600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr7:8177200-8177400	Enhancers	Fetal Kidney	kidney

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