Variant report

Variant	rs7934230
Chromosome Location	chr11:77171171-77171172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77167249..77169051-chr11:77170790..77173301,2	K562	blood:
2	chr11:77168519..77171597-chr11:77180665..77182753,3	MCF-7	breast:
3	chr11:77170599..77173535-chr11:77182172..77184556,2	K562	blood:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction
ENSG00000268635	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11237164	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1125619	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1225478	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1237490	0.83[EUR][1000 genomes]
rs1670449	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1670458	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1670462	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2154754	0.89[EUR][1000 genomes]
rs2602476	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2602487	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2725820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2725822	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3015982	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015985	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015986	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015990	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015992	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019234	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019235	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019249	0.94[EUR][1000 genomes]
rs3019257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34025917	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34880271	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs472691	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs476258	0.83[EUR][1000 genomes]
rs479104	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs493256	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs494289	0.85[EUR][1000 genomes]
rs503406	0.91[EUR][1000 genomes]
rs505841	0.82[EUR][1000 genomes]
rs508662	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs51500	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs520938	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs522015	0.91[EUR][1000 genomes]
rs523481	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs531638	0.87[EUR][1000 genomes]
rs535008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs552323	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs557484	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs558470	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs560571	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs561386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs562845	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs563731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs572485	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs576220	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs580624	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs592602	0.84[EUR][1000 genomes]
rs595654	0.87[EUR][1000 genomes]
rs598801	0.89[EUR][1000 genomes]
rs644551	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs649040	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs653792	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs674259	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs683455	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs683762	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs684793	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs686068	1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs689108	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7110378	1.00[YRI][hapmap]
rs7949721	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77155400-77181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:77160600-77178000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:77161200-77179200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:77163000-77173400	Weak transcription	Placenta	Placenta
5	chr11:77165000-77172200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:77165800-77171200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr11:77166200-77172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:77167800-77182000	Weak transcription	Fetal Kidney	kidney
9	chr11:77168400-77172200	Enhancers	Fetal Intestine Small	intestine
10	chr11:77168600-77173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:77168600-77173600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:77168600-77178800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:77168800-77179600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:77169000-77173000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:77169000-77174600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:77169000-77175200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:77169000-77181400	Weak transcription	Brain Angular Gyrus	brain
18	chr11:77169200-77173000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr11:77170400-77171200	Weak transcription	Stomach Mucosa	stomach
20	chr11:77170400-77171600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:77170400-77175200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr11:77170400-77176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:77170400-77178000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:77170600-77171800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:77170600-77171800	Weak transcription	Brain Anterior Caudate	brain
26	chr11:77170600-77171800	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:77170600-77174800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:77170600-77178000	Weak transcription	Small Intestine	intestine
29	chr11:77170800-77171200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr11:77170800-77171200	Enhancers	A549	lung
31	chr11:77170800-77171400	Enhancers	Fetal Intestine Large	intestine
32	chr11:77170800-77171800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:77170800-77175000	Weak transcription	GM12878-XiMat	blood
34	chr11:77170800-77178200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:77170800-77179000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:77171000-77171200	Enhancers	Primary B cells from cord blood	blood
37	chr11:77171000-77171200	Enhancers	Brain Substantia Nigra	brain
38	chr11:77171000-77171400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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