Variant report

Variant	rs803130
Chromosome Location	chr17:38778072-38778073
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38773127..38778716-chr17:38801405..38806004,8	MCF-7	breast:
2	chr17:38777165..38779937-chr17:38781172..38785022,5	K562	blood:
3	chr17:38773408..38778160-chr17:38801455..38807561,11	MCF-7	breast:
4	chr17:38775796..38779705-chr17:38780974..38783224,4	MCF-7	breast:
5	chr17:38777706..38779938-chr17:38802271..38803956,2	K562	blood:
6	chr17:38763443..38765054-chr17:38777371..38779183,2	K562	blood:
7	chr17:38713632..38715686-chr17:38776648..38778341,2	MCF-7	breast:
8	chr17:38777706..38780591-chr17:38801875..38803771,2	K562	blood:
9	chr17:38770013..38773292-chr17:38776635..38779762,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000073584	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs803129	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs803131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908562	1.00[AFR][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:76 , 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	chr17:38772400-38778800	Weak transcription	Spleen	Spleen
5	chr17:38772400-38783600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:38772600-38785000	Weak transcription	Ovary	ovary
7	chr17:38773000-38784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:38773000-38786800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:38774200-38784600	Weak transcription	Esophagus	oesophagus
10	chr17:38774400-38785000	Weak transcription	Lung	lung
11	chr17:38774400-38786200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:38774400-38789200	Weak transcription	Right Atrium	heart
13	chr17:38775200-38779000	Enhancers	Fetal Stomach	stomach
14	chr17:38775400-38779000	Enhancers	Fetal Thymus	thymus
15	chr17:38775600-38784600	Weak transcription	Pancreas	Pancrea
16	chr17:38775800-38784400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:38776200-38783200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:38776600-38778200	Weak transcription	Colon Smooth Muscle	Colon
19	chr17:38776600-38778400	Weak transcription	Fetal Muscle Leg	muscle
20	chr17:38776600-38778600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:38776600-38778800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr17:38776600-38780800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:38776600-38783000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:38776600-38783000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr17:38776600-38783200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:38776600-38783800	Weak transcription	Brain Hippocampus Middle	brain
27	chr17:38776600-38783800	Weak transcription	Placenta	Placenta
28	chr17:38776600-38784200	Weak transcription	Brain Germinal Matrix	brain
29	chr17:38776600-38784400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr17:38776600-38784600	Weak transcription	Brain Angular Gyrus	brain
31	chr17:38776600-38784600	Weak transcription	Colonic Mucosa	Colon
32	chr17:38776600-38784600	Weak transcription	Fetal Intestine Large	intestine
33	chr17:38776600-38784600	Weak transcription	HSMM	muscle
34	chr17:38776600-38787000	Weak transcription	Aorta	Aorta
35	chr17:38776600-38787800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr17:38776600-38788400	Weak transcription	Fetal Brain Male	brain
37	chr17:38776600-38788400	Weak transcription	Fetal Intestine Small	intestine
38	chr17:38776800-38778200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:38776800-38778200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr17:38776800-38778200	Weak transcription	NHEK	skin
41	chr17:38776800-38778400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:38776800-38778400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr17:38776800-38778600	Enhancers	Primary T cells from cord blood	blood
44	chr17:38776800-38778600	Weak transcription	Brain Anterior Caudate	brain
45	chr17:38776800-38779800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr17:38776800-38780000	Weak transcription	Fetal Kidney	kidney
47	chr17:38776800-38783000	Weak transcription	Fetal Brain Female	brain
48	chr17:38776800-38783200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:38776800-38783200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:38776800-38783200	Weak transcription	A549	lung

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