Variant report

Variant	rs7816729
Chromosome Location	chr8:102900099-102900100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11986127	0.94[EUR][1000 genomes]
rs11992131	0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11996557	1.00[JPT][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]
rs11997578	1.00[EUR][1000 genomes]
rs11997754	0.94[EUR][1000 genomes]
rs16868691	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs16868707	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs16868710	0.94[EUR][1000 genomes]
rs16868711	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs16868715	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs16868730	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs16868739	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs16868741	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs34561956	0.94[EUR][1000 genomes]
rs35690650	0.94[EUR][1000 genomes]
rs55754486	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55824424	0.94[EUR][1000 genomes]
rs55897683	0.94[EUR][1000 genomes]
rs55939093	1.00[EUR][1000 genomes]
rs56047034	0.94[EUR][1000 genomes]
rs57350304	1.00[EUR][1000 genomes]
rs58938702	0.94[EUR][1000 genomes]
rs59217267	1.00[EUR][1000 genomes]
rs59278862	1.00[EUR][1000 genomes]
rs59332201	1.00[EUR][1000 genomes]
rs61185137	0.94[EUR][1000 genomes]
rs61383411	1.00[EUR][1000 genomes]
rs7005622	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs73280871	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280876	1.00[EUR][1000 genomes]
rs73280878	1.00[EUR][1000 genomes]
rs73280879	1.00[EUR][1000 genomes]
rs73280880	1.00[EUR][1000 genomes]
rs73280885	1.00[EUR][1000 genomes]
rs73280888	1.00[EUR][1000 genomes]
rs73280891	1.00[EUR][1000 genomes]
rs73280899	0.94[EUR][1000 genomes]
rs73282603	0.94[EUR][1000 genomes]
rs73282609	0.94[EUR][1000 genomes]
rs73282612	0.94[EUR][1000 genomes]
rs73282613	0.94[EUR][1000 genomes]
rs73282614	0.94[EUR][1000 genomes]
rs73282618	0.94[EUR][1000 genomes]
rs73282620	0.94[EUR][1000 genomes]
rs73290530	0.94[EUR][1000 genomes]
rs73696550	1.00[EUR][1000 genomes]
rs73696551	1.00[EUR][1000 genomes]
rs73696560	0.94[EUR][1000 genomes]
rs73696564	0.94[EUR][1000 genomes]
rs73696586	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102885400-102900200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:102888800-102901000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:102894400-102901200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:102896400-102914800	Weak transcription	Right Ventricle	heart
5	chr8:102897600-102903600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:102897800-102900400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:102898000-102900200	Weak transcription	Psoas Muscle	Psoas
8	chr8:102898000-102900400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:102898000-102901400	Weak transcription	Right Atrium	heart
10	chr8:102898000-102914600	Weak transcription	Ovary	ovary
11	chr8:102898400-102902600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:102898800-102900800	Weak transcription	Stomach Mucosa	stomach
13	chr8:102898800-102902600	Weak transcription	Small Intestine	intestine
14	chr8:102898800-102903200	Weak transcription	NHEK	skin
15	chr8:102899000-102903000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:102899200-102901600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:102899200-102902000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:102899600-102900200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:102899600-102901000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:102899600-102901000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:102899600-102901000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:102899600-102901200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:102899600-102901200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:102899600-102902800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:102899600-102903200	Weak transcription	Primary T cells from cord blood	blood
26	chr8:102899600-102904600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:102899600-102914600	Weak transcription	Left Ventricle	heart
28	chr8:102899800-102900600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:102899800-102900800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:102899800-102901000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:102899800-102901000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:102899800-102901000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:102899800-102901200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:102899800-102901400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:102899800-102902600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:102899800-102904000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:102900000-102903400	Enhancers	K562	blood

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