Variant report

Variant	rs11995562
Chromosome Location	chr8:1427444-1427445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1408127..1410812-chr8:1426769..1429337,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10089562	0.94[EUR][1000 genomes]
rs10106787	0.94[EUR][1000 genomes]
rs11774603	0.94[EUR][1000 genomes]
rs11995880	0.93[EUR][1000 genomes]
rs13279478	0.95[EUR][1000 genomes]
rs1468414	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1468415	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1468416	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2404301	0.94[EUR][1000 genomes]
rs4875863	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4876064	0.94[EUR][1000 genomes]
rs4876065	0.95[EUR][1000 genomes]
rs7816699	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9314428	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026194	chr8:600959-1467446	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1028487	chr8:674077-1642737	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv429833	chr8:720491-1514173	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv932163	chr8:977218-1628286	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv949592	chr8:1108087-1561756	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv609509	chr8:1301110-1589888	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1028612	chr8:1319801-1468340	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv539295	chr8:1319801-1468340	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv469881	chr8:1374637-1561949	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv427811	chr8:1400816-1676653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019956	chr8:1423117-1462444	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1425000-1427600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:1425000-1427800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr8:1425000-1428200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:1425400-1430000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:1425600-1428600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:1426200-1428400	Enhancers	Fetal Intestine Small	intestine
7	chr8:1426400-1427600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:1426400-1427600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr8:1426400-1428400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr8:1426600-1427600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:1426600-1428400	Bivalent Enhancer	Fetal Stomach	stomach
12	chr8:1426600-1428600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr8:1426800-1427800	Enhancers	Rectal Smooth Muscle	rectum
14	chr8:1426800-1428000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:1426800-1428000	Enhancers	Colon Smooth Muscle	Colon
16	chr8:1426800-1428600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:1426800-1428600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:1426800-1428600	Enhancers	Fetal Brain Male	brain
19	chr8:1427000-1427600	Enhancers	Brain Germinal Matrix	brain
20	chr8:1427000-1428000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:1427000-1428400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:1427000-1428600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:1427000-1428600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:1427000-1428600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:1427200-1427600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:1427200-1427800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:1427200-1427800	Flanking Active TSS	GM12878-XiMat	blood
28	chr8:1427200-1428400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:1427200-1428800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:1427200-1428800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:1427400-1427600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:1427400-1427800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:1427400-1427800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr8:1427400-1427800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr8:1427400-1427800	Enhancers	Brain Hippocampus Middle	brain
36	chr8:1427400-1427800	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr8:1427400-1427800	Flanking Active TSS	Fetal Brain Female	brain
38	chr8:1427400-1428000	Enhancers	Brain Anterior Caudate	brain
39	chr8:1427400-1428400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:1427400-1428600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:1427400-1430800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:1427400-1431600	Weak transcription	Spleen	Spleen
43	chr8:1427400-1434200	Weak transcription	Brain Angular Gyrus	brain

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