Variant report

Variant	rs11976876
Chromosome Location	chr7:86563638-86563639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86554981..86557760-chr7:86561507..86564445,2	MCF-7	breast:
2	chr7:86562317..86564748-chr7:86847770..86849958,2	MCF-7	breast:
3	chr7:86562031..86563872-chr7:86568926..86571495,2	K562	blood:
4	chr7:86562636..86564505-chr7:86849005..86851208,2	K562	blood:
5	chr7:86535291..86538056-chr7:86562816..86564931,2	K562	blood:
6	chr7:86563507..86566282-chr7:86780477..86783122,2	K562	blood:

Variant related genes	Relation type
ENSG00000135185	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000164659	Chromatin interaction
ENSG00000224046	Chromatin interaction
ENSG00000200397	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1014634	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10232633	0.88[EUR][1000 genomes]
rs10236047	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10236910	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs10257473	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10258008	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10263372	1.00[CEU][hapmap]
rs10267763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10271867	0.85[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11974622	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs11979332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11981220	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12111888	1.00[CEU][hapmap]
rs12113681	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476455	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1557665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161067	1.00[CEU][hapmap]
rs17161070	0.89[EUR][1000 genomes]
rs17161096	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs17161098	1.00[CEU][hapmap]
rs17161118	1.00[CEU][hapmap]
rs17697806	0.87[ASN][1000 genomes]
rs17697878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17697894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17765493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299231	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2373361	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2788868	1.00[CHB][hapmap]
rs28490267	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28583791	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28635668	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61082072	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965029	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6972489	1.00[CEU][hapmap]
rs73382375	0.95[EUR][1000 genomes]
rs73382388	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73382401	0.90[EUR][1000 genomes]
rs73384105	0.90[EUR][1000 genomes]
rs7781782	1.00[CEU][hapmap]
rs7783745	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7808623	1.00[CEU][hapmap]
rs7810135	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9640574	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
7	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86498400-86576200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:86508000-86566800	Weak transcription	Brain Anterior Caudate	brain
3	chr7:86518000-86568800	Weak transcription	Psoas Muscle	Psoas
4	chr7:86518000-86577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:86521000-86576400	Weak transcription	Hela-S3	cervix
6	chr7:86527000-86577000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:86527200-86575800	Weak transcription	Left Ventricle	heart
8	chr7:86530400-86568400	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:86531200-86568800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:86539200-86578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:86539600-86568000	Weak transcription	Fetal Brain Male	brain
12	chr7:86540800-86567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:86541600-86568800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:86543200-86568800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:86543400-86571400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:86543600-86566600	Weak transcription	Adipose Nuclei	Adipose
17	chr7:86551000-86576200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:86554800-86568800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:86555000-86566600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:86555000-86577000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:86556000-86565800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:86561000-86568800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:86561200-86565800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:86561400-86565800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:86561400-86565800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:86561400-86566000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:86561400-86566800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:86561600-86568800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:86561800-86578600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:86562000-86566600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:86562200-86572800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:86562800-86566600	Weak transcription	NHDF-Ad	bronchial
33	chr7:86563000-86565600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:86563000-86566800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:86563000-86578200	Weak transcription	HUVEC	blood vessel
36	chr7:86563200-86564200	Genic enhancers	K562	blood
37	chr7:86563200-86565800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:86563200-86568800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:86563200-86568800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:86563600-86564200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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