Variant report

Variant	rs7011692
Chromosome Location	chr8:91653140-91653141
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91625970..91628020-chr8:91651909..91654017,2	MCF-7	breast:
2	chr8:91649829..91653898-chr8:91923286..91927799,5	MCF-7	breast:
3	chr8:91651680..91653672-chr8:91900976..91903680,2	MCF-7	breast:
4	chr8:91651967..91653718-chr8:92080028..92082721,2	MCF-7	breast:
5	chr8:91652169..91654028-chr8:91698689..91701594,2	MCF-7	breast:
6	chr8:91650303..91653276-chr8:91994300..91997122,2	K562	blood:
7	chr8:91651654..91654414-chr8:91722903..91725467,2	K562	blood:

Variant related genes	Relation type
ENSG00000253738	Chromatin interaction
ENSG00000155100	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10046610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10046655	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10046723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10102274	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103195	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989315	0.91[EUR][1000 genomes]
rs11994308	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16893366	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16905044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16905150	0.91[EUR][1000 genomes]
rs28394575	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4265146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4339599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4500048	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4571698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6984689	0.83[EUR][1000 genomes]
rs6994987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017389	0.91[EUR][1000 genomes]
rs73301574	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73301578	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73301581	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73301593	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73305518	0.93[EUR][1000 genomes]
rs7823529	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297885	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91624000-91654800	Weak transcription	Pancreas	Pancrea
2	chr8:91629200-91653400	Weak transcription	Ovary	ovary
3	chr8:91629200-91654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:91629600-91654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:91630600-91653600	Weak transcription	Fetal Intestine Small	intestine
6	chr8:91630600-91654200	Weak transcription	HSMMtube	muscle
7	chr8:91630600-91654400	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:91630600-91655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:91630800-91654400	Weak transcription	Fetal Intestine Large	intestine
11	chr8:91631000-91654800	Weak transcription	NH-A	brain
12	chr8:91631200-91654400	Weak transcription	Psoas Muscle	Psoas
13	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
14	chr8:91632800-91654600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:91638200-91654800	Weak transcription	Placenta	Placenta
16	chr8:91640800-91654600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:91641000-91654600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:91641600-91654800	Weak transcription	Primary T cells from cord blood	blood
19	chr8:91643200-91655400	Weak transcription	Brain Germinal Matrix	brain
20	chr8:91643200-91657200	Weak transcription	Gastric	stomach
21	chr8:91645600-91653800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:91645800-91653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:91645800-91654800	Weak transcription	HSMM	muscle
24	chr8:91647800-91656600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:91648800-91653600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:91649000-91653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:91649000-91655600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:91650400-91654000	Weak transcription	Primary B cells from cord blood	blood
29	chr8:91650600-91653200	Weak transcription	Small Intestine	intestine
30	chr8:91650600-91654200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:91650600-91654200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:91650600-91654600	Weak transcription	Right Atrium	heart
33	chr8:91650600-91654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:91650600-91654800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:91650600-91655000	Weak transcription	HMEC	breast
36	chr8:91650600-91655400	Weak transcription	Esophagus	oesophagus
37	chr8:91650800-91653600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:91650800-91653600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:91650800-91653800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:91650800-91654200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:91650800-91654800	Weak transcription	Aorta	Aorta
42	chr8:91650800-91655000	Weak transcription	Spleen	Spleen
43	chr8:91650800-91656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:91651200-91653400	Active TSS	GM12878-XiMat	blood
45	chr8:91651200-91653600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:91651400-91653400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr8:91651400-91653400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:91651400-91653400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr8:91651400-91654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:91651400-91655000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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