Variant report

Variant	rs11998115
Chromosome Location	chr8:117881446-117881447
allele	C/T
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	chr8:117880976-117882371	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117855517..117858008-chr8:117880240..117882467,2	K562	blood:

Variant related genes	Relation type
RAD21	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11984783	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11986244	1.00[AMR][1000 genomes]
rs11988252	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988890	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11992843	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993461	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888867	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888873	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888957	1.00[AMR][1000 genomes]
rs16888968	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889103	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889160	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17435839	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34316616	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58084260	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61637286	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 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	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
3	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
4	chr8:117864400-117882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:117864400-117885800	Weak transcription	Gastric	stomach
6	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
7	chr8:117865200-117882400	Weak transcription	Lung	lung
8	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
9	chr8:117865600-117881600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
11	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
14	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:117872600-117884400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:117873000-117882600	Weak transcription	Fetal Kidney	kidney
17	chr8:117873800-117883000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:117876000-117882400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:117876000-117884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:117876200-117881600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:117876200-117882800	Weak transcription	NH-A	brain
22	chr8:117876200-117883200	Weak transcription	Fetal Intestine Large	intestine
23	chr8:117877200-117884000	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr8:117877400-117885000	Enhancers	Fetal Heart	heart
25	chr8:117877600-117882200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:117877800-117884400	Weak transcription	Fetal Intestine Small	intestine
27	chr8:117877800-117884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:117878200-117881600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:117878200-117882200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:117878200-117884400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:117878400-117881600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:117878400-117882200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:117878400-117882400	Weak transcription	Placenta	Placenta
34	chr8:117878400-117882800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr8:117878400-117884200	Weak transcription	Fetal Stomach	stomach
36	chr8:117878400-117884600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:117878400-117884800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:117878600-117881600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:117878600-117881600	Weak transcription	Ovary	ovary
40	chr8:117878600-117882600	Weak transcription	Fetal Lung	lung
41	chr8:117878600-117884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:117878600-117884800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:117878800-117882000	Enhancers	Osteobl	bone
44	chr8:117878800-117883000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:117878800-117885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:117879000-117881600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr8:117879000-117881600	Weak transcription	Psoas Muscle	Psoas
48	chr8:117879000-117881600	Weak transcription	Small Intestine	intestine
49	chr8:117879000-117882400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:117879000-117882800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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