Variant report

Variant	rs71371437
Chromosome Location	chr17:38779941-38779942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38779009..38780990-chr17:38972076..38974563,2	K562	blood:
2	chr17:38779303..38783421-chr17:38799196..38802276,3	MCF-7	breast:
3	chr17:38774850..38777114-chr17:38779652..38781340,2	MCF-7	breast:
4	chr17:38777706..38780591-chr17:38801875..38803771,2	K562	blood:

Variant related genes	Relation type
ENSG00000073584	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12943070	1.00[AMR][1000 genomes]
rs12947305	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12952605	1.00[AMR][1000 genomes]
rs16966114	1.00[AMR][1000 genomes]
rs35695383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv574994	chr17:38719799-38824636	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2758454	chr17:38748300-38850104	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758689	chr17:38748300-38850104	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv431626	chr17:38770965-38999722	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv908225	chr17:38776406-38868480	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38769600-38784200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:38772000-38784600	Weak transcription	Gastric	stomach
3	chr17:38772000-38785000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:38772400-38783600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr17:38772600-38785000	Weak transcription	Ovary	ovary
6	chr17:38773000-38784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:38773000-38786800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:38774200-38784600	Weak transcription	Esophagus	oesophagus
9	chr17:38774400-38785000	Weak transcription	Lung	lung
10	chr17:38774400-38786200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:38774400-38789200	Weak transcription	Right Atrium	heart
12	chr17:38775600-38784600	Weak transcription	Pancreas	Pancrea
13	chr17:38775800-38784400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:38776200-38783200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:38776600-38780800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:38776600-38783000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:38776600-38783000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr17:38776600-38783200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:38776600-38783800	Weak transcription	Brain Hippocampus Middle	brain
20	chr17:38776600-38783800	Weak transcription	Placenta	Placenta
21	chr17:38776600-38784200	Weak transcription	Brain Germinal Matrix	brain
22	chr17:38776600-38784400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr17:38776600-38784600	Weak transcription	Brain Angular Gyrus	brain
24	chr17:38776600-38784600	Weak transcription	Colonic Mucosa	Colon
25	chr17:38776600-38784600	Weak transcription	Fetal Intestine Large	intestine
26	chr17:38776600-38784600	Weak transcription	HSMM	muscle
27	chr17:38776600-38787000	Weak transcription	Aorta	Aorta
28	chr17:38776600-38787800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr17:38776600-38788400	Weak transcription	Fetal Brain Male	brain
30	chr17:38776600-38788400	Weak transcription	Fetal Intestine Small	intestine
31	chr17:38776800-38780000	Weak transcription	Fetal Kidney	kidney
32	chr17:38776800-38783000	Weak transcription	Fetal Brain Female	brain
33	chr17:38776800-38783200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:38776800-38783200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:38776800-38783200	Weak transcription	A549	lung
36	chr17:38776800-38783400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr17:38776800-38783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr17:38776800-38783400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:38776800-38783400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:38776800-38783400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr17:38776800-38784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr17:38776800-38784000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:38776800-38784200	Weak transcription	Hela-S3	cervix
44	chr17:38776800-38784200	Weak transcription	HMEC	breast
45	chr17:38776800-38784600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr17:38776800-38786200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:38777600-38784400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr17:38777800-38780000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr17:38777800-38782000	Enhancers	Primary B cells from cord blood	blood
50	chr17:38778000-38780000	Enhancers	Primary T helper cells fromperipheralblood	blood

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