Variant report

Variant	rs6794243
Chromosome Location	chr3:178684870-178684871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178683297..178685774-chr3:178688722..178691285,2	K562	blood:
2	chr3:178151977..178152917-chr3:178683893..178684956,4	MCF-7	breast:
3	chr3:178151944..178152650-chr3:178683969..178684905,3	MCF-7	breast:
4	chr3:178161155..178161658-chr3:178684442..178684962,2	K562	blood:
5	chr3:178682903..178685774-chr3:178687578..178691285,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10804875	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10936987	0.85[ASN][1000 genomes]
rs10936988	0.84[ASN][1000 genomes]
rs11716079	0.85[ASN][1000 genomes]
rs11926798	0.85[ASN][1000 genomes]
rs4245916	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4254707	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4328857	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425305	0.90[EUR][1000 genomes]
rs4583702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4955797	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4955799	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59942474	0.86[ASN][1000 genomes]
rs61626196	0.86[ASN][1000 genomes]
rs6443608	0.84[ASN][1000 genomes]
rs6761999	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6778195	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6780631	0.84[ASN][1000 genomes]
rs6797848	0.86[ASN][1000 genomes]
rs7611854	0.84[ASN][1000 genomes]
rs9815772	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9816837	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9832291	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9841497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9862902	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9867005	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9871126	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1010148	chr3:178650949-178691377	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178669400-178685000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:178682000-178686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:178683200-178687800	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:178683600-178691200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:178684000-178685000	Enhancers	Colon Smooth Muscle	Colon
6	chr3:178684000-178685000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr3:178684000-178685200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:178684000-178685400	Enhancers	Primary T cells from cord blood	blood
9	chr3:178684000-178685600	Enhancers	Dnd41	blood
10	chr3:178684200-178685000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr3:178684200-178685200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:178684200-178685200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:178684200-178685200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:178684200-178685200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:178684200-178685200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:178684200-178685200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:178684200-178685200	Flanking Active TSS	HUVEC	blood vessel
18	chr3:178684200-178685400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:178684200-178685400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:178684200-178685400	Enhancers	Primary hematopoietic stem cells	blood
21	chr3:178684200-178685400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:178684200-178685400	Enhancers	Fetal Lung	lung
23	chr3:178684200-178687200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr3:178684400-178685000	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr3:178684400-178685200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:178684400-178685200	Active TSS	Brain Anterior Caudate	brain
27	chr3:178684400-178685200	Active TSS	Right Atrium	heart
28	chr3:178684400-178685600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:178684600-178685000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:178684600-178685000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:178684600-178685000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:178684600-178685000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:178684600-178685000	Enhancers	Brain Hippocampus Middle	brain
34	chr3:178684600-178685000	Enhancers	Fetal Heart	heart
35	chr3:178684600-178685000	Enhancers	Fetal Stomach	stomach
36	chr3:178684600-178685000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr3:178684600-178685000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr3:178684600-178685000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr3:178684600-178685200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:178684600-178685200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr3:178684600-178685200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:178684600-178685200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:178684600-178685200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr3:178684600-178685200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:178684600-178685200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:178684600-178685200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr3:178684600-178685200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:178684600-178685200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:178684600-178685200	Enhancers	Liver	Liver
50	chr3:178684600-178685200	Enhancers	Brain Substantia Nigra	brain

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