Variant report

Variant	rs55995602
Chromosome Location	chr2:171967107-171967108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171964302..171967137-chr2:171970157..171973389,3	K562	blood:
2	chr2:171965753..171967485-chr2:172016300..172018375,2	K562	blood:
3	chr2:171965727..171968245-chr2:171979215..171980847,2	K562	blood:
4	chr2:171965753..171969194-chr2:172016300..172018400,3	K562	blood:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10173931	0.90[EUR][1000 genomes]
rs10490606	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13389859	0.98[EUR][1000 genomes]
rs16823191	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16859087	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16859121	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16859137	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16859167	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16859176	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16859177	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2356600	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2356609	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723245	0.90[EUR][1000 genomes]
rs2723248	0.90[EUR][1000 genomes]
rs2723250	0.88[EUR][1000 genomes]
rs2883940	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55644524	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55885449	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55939429	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55997598	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56004444	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56134465	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56155163	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56155601	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56191582	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56308745	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56382502	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56934523	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57173242	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57733560	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58028937	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs58307585	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58685348	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59841744	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60396936	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60730419	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61105084	0.81[AMR][1000 genomes]
rs6711423	0.86[EUR][1000 genomes]
rs6722196	0.90[EUR][1000 genomes]
rs6736045	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6746133	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6750585	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73013435	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73013436	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73013439	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73013453	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73013465	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73017249	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73017262	0.81[AMR][1000 genomes]
rs73017268	0.81[AMR][1000 genomes]
rs73027220	0.90[EUR][1000 genomes]
rs73027271	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73029214	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73976125	0.86[EUR][1000 genomes]
rs73976285	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7580756	0.87[AMR][1000 genomes]
rs7591214	0.98[EUR][1000 genomes]
rs7604392	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9752051	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
2	chr2:171916600-171970800	Weak transcription	Ovary	ovary
3	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:171933200-171981000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:171943400-171973800	Weak transcription	NH-A	brain
6	chr2:171944800-171977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:171949200-171973200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:171950600-171972000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:171950600-171991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:171954400-171970400	Weak transcription	Hela-S3	cervix
11	chr2:171954600-171973400	Weak transcription	Small Intestine	intestine
12	chr2:171954600-171987200	Weak transcription	Fetal Stomach	stomach
13	chr2:171955600-171973200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:171955800-171980800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:171956400-171980200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:171957000-171970600	Weak transcription	Placenta	Placenta
17	chr2:171957000-171972200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:171957000-171975400	Weak transcription	Right Ventricle	heart
19	chr2:171957200-171967800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:171957200-171967800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:171957200-171968200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:171957200-171970800	Weak transcription	Primary B cells from cord blood	blood
23	chr2:171957200-171970800	Weak transcription	Liver	Liver
24	chr2:171957200-171972000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:171957200-171972600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:171957200-171973400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:171957200-171973800	Weak transcription	Esophagus	oesophagus
28	chr2:171957200-171975800	Weak transcription	Fetal Lung	lung
29	chr2:171957200-171976200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:171957200-171977800	Weak transcription	Thymus	Thymus
31	chr2:171957200-171978000	Weak transcription	NHEK	skin
32	chr2:171957200-171980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:171957200-171980000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:171957200-171982400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:171957200-171986000	Weak transcription	Spleen	Spleen
36	chr2:171957200-172010400	Weak transcription	HSMM	muscle
37	chr2:171957400-171969600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:171957400-171970600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:171957400-171970800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:171957400-171971400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:171957400-171972800	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:171957400-171975800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:171957600-171970000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:171957600-171970600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:171957600-171971400	Weak transcription	A549	lung
46	chr2:171957600-171975400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:171959400-171968000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:171959600-171975800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:171959600-171980000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:171960000-171967800	Weak transcription	Left Ventricle	heart

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