Variant report

Variant	rs1150781
Chromosome Location	chr6:34214322-34214323
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34211942..34216855-chr6:34244859..34247946,7	K562	blood:
2	chr6:34023047..34025641-chr6:34212999..34215804,2	K562	blood:
3	chr6:34212455..34215042-chr6:34392367..34394205,2	MCF-7	breast:
4	chr6:34155620..34158015-chr6:34212823..34214420,2	K562	blood:
5	chr6:34212618..34219497-chr6:34387813..34394246,15	K562	blood:
6	chr6:34213271..34215181-chr6:34223705..34225638,2	K562	blood:
7	chr6:34213633..34219276-chr6:34358105..34363296,16	MCF-7	breast:
8	chr12:110867141..110868642-chr6:34214071..34216786,2	K562	blood:
9	chr6:34214133..34219385-chr6:34356600..34362053,16	K562	blood:
10	chr12:110865623..110868620-chr6:34212515..34214482,4	K562	blood:
11	chr22:43011046..43012650-chr6:34212802..34215744,2	K562	blood:
12	chr6:34148396..34150316-chr6:34214119..34215823,2	K562	blood:
13	chr6:34213313..34215727-chr6:34426612..34429528,2	K562	blood:
14	chr6:33677926..33679506-chr6:34212511..34214357,2	K562	blood:
15	chr6:34212832..34215657-chr6:34236331..34238214,2	K562	blood:
16	chr6:34213440..34216386-chr6:34253142..34255941,3	K562	blood:
17	chr6:34213271..34216140-chr6:34224138..34225758,2	K562	blood:
18	chr6:33677926..33680959-chr6:34212857..34215547,3	K562	blood:
19	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
20	chr6:34213292..34215169-chr6:34359250..34362053,2	MCF-7	breast:
21	chr6:34214030..34216248-chr6:34274968..34277546,2	K562	blood:
22	chr6:34213810..34216675-chr6:34392021..34394891,5	MCF-7	breast:
23	chr6:34163086..34165732-chr6:34214171..34216119,2	MCF-7	breast:
24	chr6:34209798..34218235-chr6:34387971..34396103,20	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225339	Chromatin interaction
ENSG00000258011	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000124493	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000271231	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10080749	0.94[ASN][1000 genomes]
rs10807138	0.88[ASN][1000 genomes]
rs1150777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1150779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214804	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12530053	0.80[ASN][1000 genomes]
rs1307274	0.82[EUR][1000 genomes]
rs1573905	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1592269	0.86[CHB][hapmap]
rs1759645	1.00[CHB][hapmap]
rs1759646	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1776877	0.88[CHB][hapmap]
rs1776897	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1776898	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2483211	0.91[ASN][1000 genomes]
rs2780226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2797963	0.86[EUR][1000 genomes]
rs2797964	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2797967	0.94[ASN][1000 genomes]
rs4713763	0.80[ASN][1000 genomes]
rs4713765	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs57026767	0.96[ASN][1000 genomes]
rs59412811	0.96[ASN][1000 genomes]
rs6457769	0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6899897	0.80[ASN][1000 genomes]
rs6900030	0.80[ASN][1000 genomes]
rs6909732	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6918981	0.88[JPT][hapmap]
rs6922699	0.80[ASN][1000 genomes]
rs6922851	0.80[ASN][1000 genomes]
rs6932690	0.95[ASN][1000 genomes]
rs7742369	0.88[CHB][hapmap]
rs7753987	0.95[ASN][1000 genomes]
rs7765484	0.80[ASN][1000 genomes]
rs928482	0.95[ASN][1000 genomes]
rs9348936	0.90[ASN][1000 genomes]
rs9366846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9394200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9394201	0.96[ASN][1000 genomes]
rs9394202	0.85[ASN][1000 genomes]
rs9461968	0.85[ASN][1000 genomes]
rs9461969	0.85[ASN][1000 genomes]
rs9469745	0.81[AMR][1000 genomes]
rs9469750	0.85[ASN][1000 genomes]
rs9469757	0.80[ASN][1000 genomes]
rs9469761	0.88[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers 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	56 gene(s)	inside rSNPs	diseases
2	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv602865	chr6:34203406-34217181	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	esv1840881	chr6:34204285-34231570	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription 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	47 gene(s)	inside rSNPs	diseases
9	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
11	nsv969388	chr6:34213490-34240324	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Height	21998595	GWAS catalog

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34205400-34216600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:34206400-34215800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:34206400-34216000	Weak transcription	Fetal Kidney	kidney
4	chr6:34206400-34216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:34207200-34215000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:34207600-34216600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:34207800-34215000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:34207800-34215600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:34207800-34215800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:34208800-34215000	Strong transcription	Fetal Intestine Small	intestine
11	chr6:34209600-34214600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:34210200-34215800	Weak transcription	Pancreas	Pancrea
13	chr6:34210400-34215800	Weak transcription	Liver	Liver
14	chr6:34211000-34214400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:34211800-34214400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:34211800-34215800	Weak transcription	Primary T cells from cord blood	blood
17	chr6:34211800-34215800	Weak transcription	Fetal Intestine Large	intestine
18	chr6:34212000-34215600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:34212200-34215400	Enhancers	NH-A	brain
20	chr6:34212200-34215600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:34212400-34214400	Weak transcription	Brain Anterior Caudate	brain
22	chr6:34212400-34214600	Weak transcription	Brain Substantia Nigra	brain
23	chr6:34212400-34214600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:34212400-34214800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:34212400-34215400	Weak transcription	Brain Angular Gyrus	brain
26	chr6:34212400-34215400	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:34212400-34215400	Weak transcription	Psoas Muscle	Psoas
28	chr6:34212400-34215600	Weak transcription	Colonic Mucosa	Colon
29	chr6:34212400-34215600	Enhancers	HMEC	breast
30	chr6:34212400-34215800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:34212400-34215800	Weak transcription	Fetal Heart	heart
32	chr6:34212400-34215800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:34212400-34215800	Weak transcription	Small Intestine	intestine
34	chr6:34212400-34216000	Enhancers	HUVEC	blood vessel
35	chr6:34212600-34214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:34212600-34214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:34212600-34214600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:34212600-34214600	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:34212600-34215400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:34212600-34215600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:34212600-34215600	Weak transcription	HepG2	liver
42	chr6:34212600-34215800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:34212600-34215800	Weak transcription	Adipose Nuclei	Adipose
44	chr6:34212600-34215800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:34212600-34216000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:34212600-34216200	Weak transcription	Ovary	ovary
47	chr6:34212800-34214400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:34212800-34214400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:34212800-34214400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:34212800-34214600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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