Variant report

Variant	rs6995292
Chromosome Location	chr8:9618794-9618795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9618454..9619216-chr8:9687131..9687650,2	K562	blood:
2	chr8:9617756..9618996-chr8:9686891..9687684,4	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10086535	0.84[EUR][1000 genomes]
rs10090277	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs10090998	0.88[EUR][1000 genomes]
rs10090999	0.88[EUR][1000 genomes]
rs10093972	0.87[CEU][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs10105767	0.87[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs10105968	0.87[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs11249940	0.93[EUR][1000 genomes]
rs11249944	0.87[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11785739	0.82[EUR][1000 genomes]
rs11984920	0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs11988208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11991831	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11995167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12056794	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12234900	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12234999	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12235001	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28495967	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28499425	0.86[EUR][1000 genomes]
rs28562614	0.88[EUR][1000 genomes]
rs28675389	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3209608	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs33944167	0.96[EUR][1000 genomes]
rs34614689	0.98[EUR][1000 genomes]
rs35052906	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35420737	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35721526	0.86[EUR][1000 genomes]
rs36036709	0.86[EUR][1000 genomes]
rs4319098	0.87[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs4348499	0.82[EUR][1000 genomes]
rs4380943	0.87[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4383973	0.86[CEU][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes]
rs4474027	0.87[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4612344	0.87[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs4629869	0.87[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4841215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5002814	0.84[EUR][1000 genomes]
rs5002815	0.86[CEU][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs5018578	0.85[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs55924085	0.88[EUR][1000 genomes]
rs57000316	0.83[EUR][1000 genomes]
rs57024674	0.84[EUR][1000 genomes]
rs57331392	0.84[EUR][1000 genomes]
rs57482128	0.93[EUR][1000 genomes]
rs57580633	0.86[EUR][1000 genomes]
rs57987233	0.93[EUR][1000 genomes]
rs58458097	0.88[EUR][1000 genomes]
rs58596872	0.93[EUR][1000 genomes]
rs59201801	0.86[EUR][1000 genomes]
rs59268701	0.88[EUR][1000 genomes]
rs59519630	0.84[EUR][1000 genomes]
rs59940446	0.84[EUR][1000 genomes]
rs60051555	0.88[EUR][1000 genomes]
rs60078276	0.86[EUR][1000 genomes]
rs60222666	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60801852	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60857446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60942347	0.96[EUR][1000 genomes]
rs61594550	0.88[EUR][1000 genomes]
rs61682841	0.86[EUR][1000 genomes]
rs6422356	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6601358	0.96[EUR][1000 genomes]
rs6601362	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6981763	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6984737	0.87[CEU][hapmap]
rs6985140	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6986755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987259	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987746	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6990116	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes]
rs6994452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6999382	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7001395	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7002917	0.87[CEU][hapmap]
rs7009596	0.93[EUR][1000 genomes]
rs7010154	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7014218	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7016632	0.87[CEU][hapmap]
rs7018268	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs73523222	0.82[EUR][1000 genomes]
rs73523224	0.86[EUR][1000 genomes]
rs73523249	0.88[EUR][1000 genomes]
rs73537955	0.84[EUR][1000 genomes]
rs73537959	0.82[EUR][1000 genomes]
rs73537971	0.84[EUR][1000 genomes]
rs73539904	0.86[EUR][1000 genomes]
rs73539907	0.86[EUR][1000 genomes]
rs73662516	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7813518	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815297	0.96[EUR][1000 genomes]
rs7815378	0.82[EUR][1000 genomes]
rs7815506	0.86[EUR][1000 genomes]
rs7815644	0.84[EUR][1000 genomes]
rs7821007	0.86[EUR][1000 genomes]
rs7827395	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7837344	0.86[EUR][1000 genomes]
rs7837923	1.00[CEU][hapmap]
rs7846023	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9644705	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9644706	0.91[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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9550000-9627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:9557400-9632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:9566000-9639400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:9570000-9638600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:9585200-9627600	Weak transcription	Hela-S3	cervix
6	chr8:9588600-9626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:9603000-9638800	Weak transcription	Stomach Mucosa	stomach
8	chr8:9604200-9637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:9605400-9628200	Strong transcription	Primary T cells from cord blood	blood
10	chr8:9607400-9623200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:9608400-9619200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:9608400-9625400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:9608600-9619000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:9608600-9619200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:9608600-9619200	Weak transcription	Ovary	ovary
16	chr8:9608800-9626000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:9609400-9621200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:9609600-9634600	Weak transcription	Colonic Mucosa	Colon
19	chr8:9611000-9619200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:9611600-9619000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:9611600-9620800	Weak transcription	HMEC	breast
22	chr8:9611800-9618800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:9611800-9619000	Weak transcription	HSMMtube	muscle
24	chr8:9611800-9619200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:9611800-9619200	Weak transcription	Psoas Muscle	Psoas
26	chr8:9611800-9620800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:9611800-9625200	Weak transcription	Right Ventricle	heart
28	chr8:9612000-9619000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:9612400-9619000	Weak transcription	NH-A	brain
30	chr8:9612400-9619200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:9612400-9619200	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:9612600-9618800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:9614400-9618800	Weak transcription	Placenta	Placenta
34	chr8:9616000-9619600	Weak transcription	HUVEC	blood vessel
35	chr8:9616000-9634400	Weak transcription	Fetal Heart	heart
36	chr8:9616400-9619000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:9616600-9619000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:9616600-9619000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:9616600-9619200	Weak transcription	A549	lung
40	chr8:9616600-9619200	Weak transcription	NHEK	skin
41	chr8:9616600-9627800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr8:9616800-9618800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:9616800-9619000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:9616800-9619000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:9616800-9619000	Weak transcription	Brain Angular Gyrus	brain
46	chr8:9616800-9619000	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:9616800-9619000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:9616800-9619000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:9616800-9619000	Weak transcription	Fetal Intestine Large	intestine
50	chr8:9616800-9619000	Weak transcription	Fetal Kidney	kidney

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