Variant report

Variant	rs2068434
Chromosome Location	chr5:75779471-75779472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3925034	0.86[JPT][hapmap]
rs4703709	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4704317	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4704318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6453224	0.91[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2068434	HEXB	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75768400-75780000	Weak transcription	Esophagus	oesophagus
2	chr5:75769600-75816600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:75770000-75779600	Weak transcription	GM12878-XiMat	blood
4	chr5:75772200-75782200	Enhancers	Stomach Mucosa	stomach
5	chr5:75774600-75780800	Enhancers	Small Intestine	intestine
6	chr5:75775000-75785800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:75775600-75787600	Weak transcription	Gastric	stomach
8	chr5:75776000-75783800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:75776200-75779600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:75776200-75779600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:75776200-75782400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:75776200-75783600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:75776200-75784600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:75776200-75785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:75776200-75787600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:75776200-75801000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:75776400-75782000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:75776400-75791200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:75776400-75800200	Weak transcription	Primary T cells from cord blood	blood
20	chr5:75776800-75784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:75776800-75791000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:75777000-75779600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:75777000-75779800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:75777200-75779600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:75777200-75780200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:75777400-75779800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:75777400-75781600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:75777600-75780000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:75777600-75780000	Enhancers	Duodenum Mucosa	Duodenum
30	chr5:75777600-75780200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:75777600-75781600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:75777800-75782400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:75778000-75780800	Enhancers	Pancreas	Pancrea
34	chr5:75778000-75785800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:75778200-75780400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr5:75778200-75780800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:75778200-75781600	Enhancers	HepG2	liver
38	chr5:75778200-75783600	Weak transcription	K562	blood
39	chr5:75778400-75779600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:75778400-75780200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:75778400-75781800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:75778400-75793200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:75778600-75779800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:75778600-75780000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:75778600-75780200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr5:75778600-75780800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:75778800-75780200	Enhancers	Colonic Mucosa	Colon
48	chr5:75778800-75782800	Enhancers	Liver	Liver
49	chr5:75778800-75783400	Weak transcription	Fetal Lung	lung
50	chr5:75779000-75779600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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