Variant report

Variant	rs1150776
Chromosome Location	chr6:34217878-34217879
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr6:34216074-34218050	SK-N-SH	brain:	n/a	chr6:34217079-34217089
2	RAD21	chr6:34215772-34218220	SK-N-SH	brain:	n/a	chr6:34217076-34217090
3	BHLHE40	chr6:34217824-34217909	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34212618..34219497-chr6:34387813..34394246,15	K562	blood:
2	chr6:34213633..34219276-chr6:34358105..34363296,16	MCF-7	breast:
3	chr6:34214133..34219385-chr6:34356600..34362053,16	K562	blood:
4	chr6:34215295..34220270-chr6:34358417..34361933,11	MCF-7	breast:
5	chr6:34209798..34218235-chr6:34387971..34396103,20	K562	blood:

Variant related genes	Relation type
C6orf1	TF binding region
ENSG00000124614	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000270800	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1150782	1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[EUR][1000 genomes]
rs1150783	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11964107	1.00[EUR][1000 genomes]
rs11964899	1.00[EUR][1000 genomes]
rs1776894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2395556	1.00[AMR][1000 genomes]
rs2797965	1.00[EUR][1000 genomes]
rs34052020	1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[AMR][1000 genomes]
rs34687387	1.00[MEX][hapmap]
rs35333862	1.00[EUR][1000 genomes]
rs58752340	1.00[EUR][1000 genomes]
rs60121695	1.00[EUR][1000 genomes]
rs6899326	1.00[EUR][1000 genomes]
rs6918371	1.00[MEX][hapmap]
rs7762530	1.00[EUR][1000 genomes]
rs923943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs923944	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34216600-34218000	Active TSS	NHLF	lung
2	chr6:34216600-34218200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:34217200-34218200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr6:34217400-34218000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr6:34217400-34218000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:34217400-34218000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:34217400-34218000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:34217400-34218000	Enhancers	Esophagus	oesophagus
9	chr6:34217400-34218000	Enhancers	Right Ventricle	heart
10	chr6:34217400-34218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:34217400-34218200	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:34217400-34218200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:34217400-34218200	Enhancers	Fetal Thymus	thymus
14	chr6:34217400-34218200	Enhancers	Left Ventricle	heart
15	chr6:34217400-34218200	Enhancers	Lung	lung
16	chr6:34217400-34218200	Enhancers	Pancreas	Pancrea
17	chr6:34217400-34218200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr6:34217400-34218200	Enhancers	Spleen	Spleen
19	chr6:34217400-34218200	Enhancers	HSMMtube	muscle
20	chr6:34217600-34218000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr6:34217600-34218000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:34217600-34218000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:34217600-34218000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:34217600-34218000	Flanking Active TSS	Liver	Liver
25	chr6:34217600-34218000	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:34217600-34218000	Enhancers	Brain Hippocampus Middle	brain
27	chr6:34217600-34218000	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr6:34217600-34218000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr6:34217600-34218000	Flanking Active TSS	HepG2	liver
30	chr6:34217600-34218000	Enhancers	HMEC	breast
31	chr6:34217600-34218000	Enhancers	HUVEC	blood vessel
32	chr6:34217600-34218000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr6:34217600-34218000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr6:34217600-34218200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:34217600-34218200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:34217600-34218200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:34217600-34218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:34217600-34218200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr6:34217600-34218200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr6:34217600-34218200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:34217600-34218200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr6:34217600-34218200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr6:34217600-34218200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:34217600-34218200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:34217600-34218200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:34217600-34218200	Enhancers	Colonic Mucosa	Colon
47	chr6:34217600-34218200	Enhancers	Colon Smooth Muscle	Colon
48	chr6:34217600-34218200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr6:34217600-34218200	Enhancers	NHEK	skin
50	chr6:34217600-34218400	Enhancers	K562	blood

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