Variant report

Variant	rs2994438
Chromosome Location	chr1:85126828-85126829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85107610..85110415-chr1:85125132..85127856,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10874456	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10874457	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1340524	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17376391	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2911560	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2911569	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2911572	0.83[EUR][1000 genomes]
rs2911580	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs2911582	0.85[EUR][1000 genomes]
rs2911612	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2943662	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2943674	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs2994436	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2994441	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2994442	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2994444	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994445	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2994609	0.83[EUR][1000 genomes]
rs2994939	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2994945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2994950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3021456	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4434855	0.85[EUR][1000 genomes]
rs4907090	0.81[EUR][1000 genomes]
rs6576719	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6576720	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72954036	0.85[EUR][1000 genomes]
rs7527484	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7535997	0.85[EUR][1000 genomes]
rs7536257	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7546691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85087000-85147400	Weak transcription	Gastric	stomach
2	chr1:85099200-85138200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:85099400-85131200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:85106200-85140400	Weak transcription	NHEK	skin
5	chr1:85106400-85155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:85108000-85155000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:85108200-85128800	Weak transcription	GM12878-XiMat	blood
8	chr1:85109200-85133000	Weak transcription	Pancreas	Pancrea
9	chr1:85110800-85129400	Strong transcription	Fetal Thymus	thymus
10	chr1:85111400-85128400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:85111400-85131400	Weak transcription	HSMM	muscle
12	chr1:85111600-85127800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:85111800-85152000	Weak transcription	Aorta	Aorta
14	chr1:85112400-85129000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:85112400-85138200	Strong transcription	K562	blood
16	chr1:85112600-85130600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:85113000-85131200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:85113200-85138200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:85113400-85129200	Weak transcription	Fetal Heart	heart
20	chr1:85113400-85138200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:85114400-85127600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:85114400-85130800	Weak transcription	Ovary	ovary
23	chr1:85114400-85139000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:85114600-85130800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:85114800-85128000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:85114800-85128600	Strong transcription	Dnd41	blood
27	chr1:85114800-85133000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:85114800-85134000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:85115400-85137800	Weak transcription	Small Intestine	intestine
30	chr1:85115800-85133800	Weak transcription	Lung	lung
31	chr1:85116200-85128600	Weak transcription	Fetal Lung	lung
32	chr1:85116200-85135400	Weak transcription	HMEC	breast
33	chr1:85116400-85134800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:85117800-85137800	Weak transcription	Psoas Muscle	Psoas
35	chr1:85118000-85127200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:85119200-85134600	Weak transcription	Right Ventricle	heart
37	chr1:85119400-85131400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:85119400-85136600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:85120200-85128800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:85120400-85128400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:85120400-85128800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:85120600-85129000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:85120600-85129600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:85120600-85134800	Strong transcription	Fetal Intestine Large	intestine
45	chr1:85121200-85129600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:85121600-85127800	Strong transcription	Brain Germinal Matrix	brain
47	chr1:85122600-85129600	Weak transcription	HepG2	liver
48	chr1:85122800-85136000	Weak transcription	Placenta	Placenta
49	chr1:85123000-85128400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:85123200-85128000	Strong transcription	Monocytes-CD14+_RO01746	blood

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