Variant report

Variant	rs805269
Chromosome Location	chr6:31644282-31644283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31600031..31602072-chr6:31643441..31645750,2	MCF-7	breast:
2	chr6:31642643..31644341-chr6:31742570..31744549,2	MCF-7	breast:
3	chr6:31628072..31629869-chr6:31642878..31645662,2	MCF-7	breast:
4	chr6:31644177..31647440-chr6:31649012..31650906,3	MCF-7	breast:
5	chr6:31643588..31645146-chr6:31652083..31654140,2	MCF-7	breast:
6	chr6:31643905..31645588-chr6:31912349..31914047,2	K562	blood:
7	chr6:31643514..31645855-chr6:31830307..31832340,2	K562	blood:

Variant related genes	Relation type
ENSG00000204469	Chromatin interaction
ENSG00000243649	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204439	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2255741	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2736158	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2736161	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2736163	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2736165	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2736182	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2844464	0.83[ASN][1000 genomes]
rs2857696	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3749952	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4713479	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs707927	0.82[EUR][1000 genomes]
rs750332	0.82[AFR][1000 genomes]
rs760293	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs805258	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805263	0.82[EUR][1000 genomes]
rs805264	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805268	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805270	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805272	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805283	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805291	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805295	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461717	0.93[ASN][1000 genomes]
rs9469040	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9469042	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
12	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
13	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised 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	326 gene(s)	inside rSNPs	diseases
14	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
15	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31634800-31648200	Weak transcription	Right Atrium	heart
2	chr6:31635600-31644600	Strong transcription	Fetal Intestine Small	intestine
3	chr6:31635600-31644600	Strong transcription	Fetal Stomach	stomach
4	chr6:31636000-31648400	Weak transcription	Fetal Heart	heart
5	chr6:31637600-31648200	Weak transcription	Psoas Muscle	Psoas
6	chr6:31638400-31644400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:31638400-31648200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:31638800-31648000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:31639800-31646800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:31639800-31648400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:31639800-31648400	Weak transcription	Fetal Brain Male	brain
12	chr6:31640200-31644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:31640200-31645000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:31640200-31648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:31640200-31648200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:31640200-31648200	Weak transcription	Fetal Kidney	kidney
17	chr6:31640200-31648200	Weak transcription	Stomach Mucosa	stomach
18	chr6:31640200-31648200	Weak transcription	HUVEC	blood vessel
19	chr6:31640200-31648600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:31640200-31648800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:31640400-31648200	Weak transcription	NHDF-Ad	bronchial
22	chr6:31640800-31648000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:31640800-31648200	Weak transcription	Hela-S3	cervix
24	chr6:31640800-31648200	Weak transcription	HMEC	breast
25	chr6:31640800-31648400	Weak transcription	Small Intestine	intestine
26	chr6:31641200-31648200	Weak transcription	Fetal Lung	lung
27	chr6:31641200-31648400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:31641400-31644400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:31641400-31647200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:31641400-31647200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:31641400-31647800	Weak transcription	NHLF	lung
32	chr6:31641400-31648000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:31641400-31648000	Weak transcription	Brain Angular Gyrus	brain
34	chr6:31641400-31648000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:31641400-31648000	Weak transcription	Colonic Mucosa	Colon
36	chr6:31641400-31648000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:31641400-31648200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:31641400-31648200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:31641400-31648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:31641400-31648200	Weak transcription	Esophagus	oesophagus
41	chr6:31641400-31648200	Weak transcription	Left Ventricle	heart
42	chr6:31641400-31648200	Weak transcription	Right Ventricle	heart
43	chr6:31641400-31648400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:31641400-31648400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:31641400-31648400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:31641400-31648400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:31641400-31648400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:31641400-31648800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:31641400-31648800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:31641400-31648800	Weak transcription	Aorta	Aorta

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