Variant report

Variant	rs10046655
Chromosome Location	chr8:91653762-91653763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:91651930-91659303	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:91653688-91653904	ProgFib	skin:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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	chr8:91652169..91654028-chr8:91698689..91701594,2	MCF-7	breast:
4	chr8:91651654..91654414-chr8:91722903..91725467,2	K562	blood:
5	chr8:91653540..91656169-chr8:91952201..91954392,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000123119	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10046610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092379	1.00[CEU][hapmap]
rs10102274	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10504897	1.00[CEU][hapmap]
rs10504899	1.00[CEU][hapmap]
rs10504900	1.00[CEU][hapmap]
rs11986094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989315	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11994308	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905150	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16905331	1.00[CEU][hapmap]
rs28394575	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471253	1.00[CEU][hapmap]
rs6984689	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs6994987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7011692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7013400	1.00[CEU][hapmap]
rs7017389	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73301574	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301581	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305518	0.93[EUR][1000 genomes]
rs7815900	1.00[CEU][hapmap]
rs7823529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297885	1.00[CEU][hapmap];1.00[CHB][hapmap];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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91624000-91654800	Weak transcription	Pancreas	Pancrea
2	chr8:91629200-91654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:91629600-91654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:91630600-91654200	Weak transcription	HSMMtube	muscle
5	chr8:91630600-91654400	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:91630600-91655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:91630800-91654400	Weak transcription	Fetal Intestine Large	intestine
9	chr8:91631000-91654800	Weak transcription	NH-A	brain
10	chr8:91631200-91654400	Weak transcription	Psoas Muscle	Psoas
11	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
12	chr8:91632800-91654600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:91638200-91654800	Weak transcription	Placenta	Placenta
14	chr8:91640800-91654600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:91641000-91654600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:91641600-91654800	Weak transcription	Primary T cells from cord blood	blood
17	chr8:91643200-91655400	Weak transcription	Brain Germinal Matrix	brain
18	chr8:91643200-91657200	Weak transcription	Gastric	stomach
19	chr8:91645600-91653800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:91645800-91654800	Weak transcription	HSMM	muscle
21	chr8:91647800-91656600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:91649000-91655600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:91650400-91654000	Weak transcription	Primary B cells from cord blood	blood
24	chr8:91650600-91654200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:91650600-91654200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:91650600-91654600	Weak transcription	Right Atrium	heart
27	chr8:91650600-91654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:91650600-91654800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:91650600-91655000	Weak transcription	HMEC	breast
30	chr8:91650600-91655400	Weak transcription	Esophagus	oesophagus
31	chr8:91650800-91653800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:91650800-91654200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:91650800-91654800	Weak transcription	Aorta	Aorta
34	chr8:91650800-91655000	Weak transcription	Spleen	Spleen
35	chr8:91650800-91656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:91651400-91654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:91651400-91655000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:91651400-91655400	Weak transcription	Right Ventricle	heart
39	chr8:91651800-91653800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:91651800-91653800	Enhancers	Fetal Lung	lung
41	chr8:91651800-91654200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:91652000-91653800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:91652000-91654200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:91652200-91654800	Enhancers	Adipose Nuclei	Adipose
45	chr8:91652200-91654800	Enhancers	Brain Angular Gyrus	brain
46	chr8:91652200-91654800	Enhancers	Hela-S3	cervix
47	chr8:91652200-91655000	Enhancers	Brain Cingulate Gyrus	brain
48	chr8:91652200-91655600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:91652200-91656000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
50	chr8:91652200-91656600	Enhancers	Primary B cells from peripheral blood	blood

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