Variant report

Variant	rs17010454
Chromosome Location	chr10:49631588-49631589
allele	A/G
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	chr10:49630925-49631603	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49629411..49632301-chr10:49684401..49686172,3	K562	blood:
2	chr10:49613192..49615301-chr10:49629132..49631884,2	K562	blood:
3	chr10:49629235..49632156-chr10:49637713..49640057,2	K562	blood:
4	chr10:49620652..49623307-chr10:49629695..49632361,2	K562	blood:

Variant related genes	Relation type
MAPK8	TF binding region
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10508900	0.82[CEU][hapmap]
rs17009540	0.82[CEU][hapmap]
rs17010208	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17010407	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17010430	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17010447	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010455	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010496	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17697960	0.80[YRI][hapmap]
rs17697972	1.00[EUR][1000 genomes]
rs1867586	0.92[EUR][1000 genomes]
rs3730160	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3855904	0.88[EUR][1000 genomes]
rs57508520	1.00[EUR][1000 genomes]
rs58676018	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60992548	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838668	1.00[EUR][1000 genomes]
rs61838669	0.96[EUR][1000 genomes]
rs61838672	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61838673	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61838677	1.00[EUR][1000 genomes]
rs61838697	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838698	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838700	1.00[EUR][1000 genomes]
rs61838701	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838703	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs61838704	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838707	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61838708	0.88[EUR][1000 genomes]
rs61838722	0.84[EUR][1000 genomes]
rs61838723	0.84[EUR][1000 genomes]
rs61838724	0.80[EUR][1000 genomes]
rs61838726	0.84[EUR][1000 genomes]
rs61838728	0.84[EUR][1000 genomes]
rs61838730	0.84[EUR][1000 genomes]
rs61838731	0.84[EUR][1000 genomes]
rs61838735	0.84[EUR][1000 genomes]
rs61840548	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61840549	0.92[EUR][1000 genomes]
rs61840550	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61840556	0.88[EUR][1000 genomes]
rs61840558	1.00[EUR][1000 genomes]
rs7089077	0.96[EUR][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49607600-49647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:49607600-49652400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:49608000-49645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr10:49608200-49634400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:49612000-49664200	Weak transcription	Thymus	Thymus
6	chr10:49612800-49660200	Weak transcription	Aorta	Aorta
7	chr10:49614800-49638400	Weak transcription	HUVEC	blood vessel
8	chr10:49619000-49664200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:49619600-49634000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:49619600-49645600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:49619800-49634400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr10:49620600-49643400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:49620800-49634000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr10:49620800-49634400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:49620800-49643400	Weak transcription	Right Ventricle	heart
16	chr10:49620800-49646800	Weak transcription	Hela-S3	cervix
17	chr10:49620800-49647000	Weak transcription	NHDF-Ad	bronchial
18	chr10:49620800-49647600	Weak transcription	Colonic Mucosa	Colon
19	chr10:49620800-49652400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:49620800-49658600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:49621000-49638400	Weak transcription	Fetal Stomach	stomach
22	chr10:49621000-49638800	Weak transcription	Brain Germinal Matrix	brain
23	chr10:49621200-49632000	Weak transcription	Psoas Muscle	Psoas
24	chr10:49621200-49638400	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:49621200-49638800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:49621200-49641600	Weak transcription	Small Intestine	intestine
27	chr10:49621200-49641800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr10:49621200-49643400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr10:49621200-49647000	Weak transcription	Fetal Intestine Small	intestine
30	chr10:49621200-49647400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:49621200-49647800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:49621200-49657400	Weak transcription	Brain Hippocampus Middle	brain
33	chr10:49621400-49633200	Weak transcription	Primary B cells from cord blood	blood
34	chr10:49621400-49634000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr10:49621400-49634000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr10:49621400-49634000	Weak transcription	Liver	Liver
37	chr10:49621400-49634000	Weak transcription	Placenta	Placenta
38	chr10:49621400-49634000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr10:49621400-49634000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr10:49621400-49634400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr10:49621400-49634600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr10:49621400-49637200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr10:49621400-49638000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr10:49621400-49641600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr10:49621400-49641800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr10:49621400-49643600	Weak transcription	Fetal Brain Male	brain
47	chr10:49621400-49644000	Weak transcription	Fetal Brain Female	brain
48	chr10:49621400-49647600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:49621400-49650800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:49621400-49652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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