Variant report

Variant	rs72972247
Chromosome Location	chr2:234088487-234088488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234087613..234089529-chr2:234158896..234161748,2	K562	blood:
2	chr2:234087613..234089966-chr2:234160248..234161862,2	K562	blood:
3	chr2:234087186..234090197-chr2:234090529..234094210,3	K562	blood:

Variant related genes	Relation type
ENSG00000085978	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10929072	0.92[ASN][1000 genomes]
rs6727452	0.95[ASN][1000 genomes]
rs68160732	0.96[ASN][1000 genomes]
rs72972231	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72972236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72972249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72972252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72972255	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72972257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234053800-234093200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr2:234053800-234110800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
4	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:234054400-234110600	Weak transcription	Small Intestine	intestine
6	chr2:234055200-234113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:234058600-234105400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:234061600-234094600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:234062000-234108400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:234074200-234111200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:234074600-234122000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:234074800-234101000	Strong transcription	Primary hematopoietic stem cells	blood
13	chr2:234075000-234100000	Weak transcription	HUVEC	blood vessel
14	chr2:234075200-234094200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:234075200-234111800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:234075200-234117000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:234075400-234111200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:234075400-234113800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:234075400-234115200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr2:234077200-234117200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:234077800-234106400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:234078200-234088800	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:234078200-234110000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:234078800-234098600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:234079200-234091200	Weak transcription	Gastric	stomach
26	chr2:234079200-234094400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:234079200-234095600	Weak transcription	Right Ventricle	heart
28	chr2:234081000-234097800	Weak transcription	Colonic Mucosa	Colon
29	chr2:234081200-234088600	Weak transcription	Esophagus	oesophagus
30	chr2:234081200-234092200	Weak transcription	Liver	Liver
31	chr2:234083200-234089800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:234084800-234097800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:234085200-234107200	Strong transcription	Thymus	Thymus
34	chr2:234085400-234091800	Strong transcription	HepG2	liver
35	chr2:234085600-234092600	Strong transcription	GM12878-XiMat	blood
36	chr2:234085600-234094600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:234085800-234088600	Strong transcription	Dnd41	blood
38	chr2:234086800-234088600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:234086800-234088800	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:234086800-234099600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:234087000-234096600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:234087200-234095600	Strong transcription	HMEC	breast
43	chr2:234087400-234088600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:234087400-234088800	Enhancers	Right Atrium	heart
45	chr2:234087400-234088800	Genic enhancers	Spleen	Spleen
46	chr2:234087400-234089000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:234087400-234089000	Strong transcription	Placenta	Placenta
48	chr2:234087600-234088800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
49	chr2:234087600-234088800	Genic enhancers	Lung	lung
50	chr2:234087600-234089000	Flanking Active TSS	K562	blood

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