Variant report

Variant	rs16904995
Chromosome Location	chr8:91634559-91634560
allele	A/G
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	POLR2A	chr8:91630912-91635780	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:91634399-91634687	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91633522..91635314-chr8:91656798..91659487,2	K562	blood:
2	chr8:91623473..91626403-chr8:91632534..91634782,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254180	TF binding region
ENSG00000180694	Chromatin interaction
ENSG00000246792	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10046624	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10090881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10092300	1.00[MEX][hapmap]
rs10096165	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096820	1.00[MEX][hapmap]
rs10098726	1.00[MEX][hapmap]
rs10105781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10107245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12334579	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904906	1.00[MEX][hapmap]
rs16904993	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16905037	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16905221	1.00[MEX][hapmap]
rs2003429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2008666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28442149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57004488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58805384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59515830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60822939	0.82[AMR][1000 genomes]
rs6471203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7006684	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73692313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73692317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73692455	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7818792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823272	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7824028	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833398	1.00[MEX][hapmap]
rs7836315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7846326	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9297878	1.00[MEX][hapmap]
rs9297883	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91620400-91652200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:91622400-91634600	Weak transcription	NHEK	skin
3	chr8:91624000-91654800	Weak transcription	Pancreas	Pancrea
4	chr8:91624200-91652200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:91624400-91644800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:91624600-91635000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:91628200-91650400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:91628600-91652000	Weak transcription	HUVEC	blood vessel
9	chr8:91629000-91639800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:91629200-91638600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:91629200-91639800	Weak transcription	Lung	lung
12	chr8:91629200-91650200	Weak transcription	Esophagus	oesophagus
13	chr8:91629200-91653400	Weak transcription	Ovary	ovary
14	chr8:91629200-91654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:91629400-91635400	Weak transcription	A549	lung
16	chr8:91629400-91636000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:91629400-91637600	Weak transcription	Placenta	Placenta
18	chr8:91629400-91638400	Weak transcription	Liver	Liver
19	chr8:91629400-91638800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:91629400-91640800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:91629400-91645200	Weak transcription	NHDF-Ad	bronchial
22	chr8:91629600-91636600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:91629600-91637800	Weak transcription	HepG2	liver
24	chr8:91629600-91654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:91630200-91639200	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr8:91630200-91642200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:91630400-91638000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:91630600-91637200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:91630600-91642200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:91630600-91649400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:91630600-91653600	Weak transcription	Fetal Intestine Small	intestine
32	chr8:91630600-91654200	Weak transcription	HSMMtube	muscle
33	chr8:91630600-91654400	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:91630600-91655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:91630800-91635000	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:91630800-91636400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:91630800-91636600	Strong transcription	K562	blood
39	chr8:91630800-91640000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:91630800-91640200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:91630800-91640600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:91630800-91652200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:91630800-91654400	Weak transcription	Fetal Intestine Large	intestine
44	chr8:91631000-91641000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:91631000-91654800	Weak transcription	NH-A	brain
46	chr8:91631200-91638200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:91631200-91654400	Weak transcription	Psoas Muscle	Psoas
48	chr8:91631600-91635000	Enhancers	Stomach Mucosa	stomach
49	chr8:91631600-91637200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:91631600-91638800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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