Variant report

Variant	rs11991815
Chromosome Location	chr8:102900246-102900247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11986905	0.87[YRI][hapmap]
rs11988615	0.82[YRI][hapmap]
rs11995782	0.87[YRI][hapmap]
rs11995792	0.87[YRI][hapmap]
rs1440257	0.87[YRI][hapmap]
rs16868558	0.87[YRI][hapmap]
rs16868561	0.87[YRI][hapmap]
rs16868565	0.87[YRI][hapmap]
rs16868566	0.87[YRI][hapmap]
rs7464196	0.87[YRI][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11991815	RAGE	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102888800-102901000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:102894400-102901200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:102896400-102914800	Weak transcription	Right Ventricle	heart
4	chr8:102897600-102903600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:102897800-102900400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:102898000-102900400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:102898000-102901400	Weak transcription	Right Atrium	heart
8	chr8:102898000-102914600	Weak transcription	Ovary	ovary
9	chr8:102898400-102902600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:102898800-102900800	Weak transcription	Stomach Mucosa	stomach
11	chr8:102898800-102902600	Weak transcription	Small Intestine	intestine
12	chr8:102898800-102903200	Weak transcription	NHEK	skin
13	chr8:102899000-102903000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:102899200-102901600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:102899200-102902000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:102899600-102901000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:102899600-102901000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:102899600-102901000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:102899600-102901200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:102899600-102901200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:102899600-102902800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:102899600-102903200	Weak transcription	Primary T cells from cord blood	blood
23	chr8:102899600-102904600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:102899600-102914600	Weak transcription	Left Ventricle	heart
25	chr8:102899800-102900600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:102899800-102900800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:102899800-102901000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:102899800-102901000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:102899800-102901000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:102899800-102901200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:102899800-102901400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:102899800-102902600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:102899800-102904000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:102900000-102903400	Enhancers	K562	blood
35	chr8:102900200-102900400	Enhancers	Psoas Muscle	Psoas
36	chr8:102900200-102901800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:102900200-102902800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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