Variant report

Variant	rs12619560
Chromosome Location	chr2:191395646-191395647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191395606-191395656	NHBE	bronchial:	n/a
2	chr2:191395606-191395656	SK-N-SH_RA	brain:	n/a
3	chr2:191395606-191395656	SK-N-SH	brain:	n/a
4	chr2:191395606-191395656	AG09319	gingival:	n/a
5	chr2:191395606-191395656	ProgFib	skin:	n/a
6	chr2:191395606-191395656	NT2-D1	testis:	n/a
7	chr2:191395606-191395656	GM06990	blood:	n/a
8	chr2:191395606-191395656	GM19239	blood:	n/a
9	chr2:191395606-191395656	BJ	skin:	n/a
10	chr2:191395606-191395656	AG09309	skin:	n/a
11	chr2:191395606-191395656	Hepatocyte	liver:	n/a
12	chr2:191395606-191395656	ECC-1	luminal epithelium:	n/a
13	chr2:191395606-191395656	H1-hESC	embryonic stem cell:	embryo
14	chr2:191395606-191395656	HRE	kidney:	n/a
15	chr2:191395606-191395656	HRCEpiC	kidney:	n/a
16	chr2:191395606-191395656	PFSK-1	brain:	n/a
17	chr2:191395606-191395656	HAEpiC	amniotic membrane:	n/a
18	chr2:191395606-191395656	HIPEpiC	eye:	n/a
19	chr2:191395606-191395656	HUVEC	blood vessel:	n/a
20	chr2:191395606-191395656	ovcar-3	ovarian:	n/a
21	chr2:191395606-191395656	CMK	blood:	n/a
22	chr2:191395606-191395656	GM12892	blood:	n/a
23	chr2:191395606-191395656	HL-60	blood:	n/a
24	chr2:191395606-191395656	HNPCEpiC	eye:	n/a
25	chr2:191395606-191395656	AG04450	lung:	fetal
26	chr2:191395606-191395656	HepG2	liver:	n/a
27	chr2:191395606-191395656	NHDF-neo	bronchial:	n/a
28	chr2:191395606-191395656	NB4	blood:	n/a
29	chr2:191395606-191395656	AG10803	skin:	n/a
30	chr2:191395606-191395656	HCF	heart:	n/a
31	chr2:191395606-191395656	MCF10A-Er-Src	breast:	n/a
32	chr2:191395606-191395656	GM12891	blood:	n/a
33	chr2:191395606-191395656	SAEC	small airway:	n/a
34	chr2:191395606-191395656	AG04449	skin:	fetal
35	chr2:191395606-191395656	HEK293	kidney:	embryo
36	chr2:191395606-191395656	Hela-S3	cervix:	n/a
37	chr2:191395606-191395656	PrEC	prostate:	n/a
38	chr2:191395606-191395656	MCF-7	breast:	n/a
39	chr2:191395606-191395656	RPTEC	kidney:	n/a
40	chr2:191395606-191395656	U87	brain:	n/a
41	chr2:191395606-191395656	A549	lung:	n/a
42	chr2:191395606-191395656	PANC-1	pancreas:	n/a
43	chr2:191395606-191395656	Caco-2	colon:	n/a
44	chr2:191395606-191395656	HMEC	breast:	n/a
45	chr2:191395606-191395656	HCT-116	colon:	n/a
46	chr2:191395606-191395656	HEEpiC	esophagus:	n/a
47	chr2:191395606-191395656	SKMC	muscle:	n/a
48	chr2:191395606-191395656	SK-N-MC	brain:	n/a
49	chr2:191395606-191395656	T-47D	breast:	n/a
50	chr2:191395606-191395656	Jurkat	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:191393388..191396315-chr2:191446782..191449171,2	K562	blood:
2	chr2:191385869..191388991-chr2:191394619..191398567,3	K562	blood:
3	chr2:191393746..191397306-chr2:191397440..191402907,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233654	CpG island
ENSG00000189362	Chromatin interaction
ENSG00000233654	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11897266	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12464923	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12472240	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12473460	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12613365	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12615925	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12619125	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12621493	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12622496	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693576	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12693578	0.80[AFR][1000 genomes]
rs12987797	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13013848	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13019278	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13028201	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13029743	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13391723	0.90[ASN][1000 genomes]
rs34274882	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34417560	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34825614	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36055519	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811609	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4073873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4129081	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4264585	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4324342	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4500977	0.80[AFR][1000 genomes]
rs4853508	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4853709	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4853718	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4853720	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55754136	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55987230	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434400	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6707773	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6707846	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6711006	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72911109	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7560318	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7601745	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7608180	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191357200-191398200	Weak transcription	Fetal Kidney	kidney
2	chr2:191362800-191398200	Weak transcription	Fetal Brain Male	brain
3	chr2:191365200-191398000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:191365800-191397400	Weak transcription	Liver	Liver
5	chr2:191375200-191398600	Weak transcription	Ovary	ovary
6	chr2:191376000-191397800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:191379400-191397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:191379400-191398200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:191382600-191398400	Weak transcription	Psoas Muscle	Psoas
10	chr2:191385400-191397200	Weak transcription	Thymus	Thymus
11	chr2:191385600-191396000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:191387400-191398600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:191390400-191395800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:191390800-191397400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:191391000-191397200	Enhancers	Primary T cells from cord blood	blood
16	chr2:191391200-191398400	Weak transcription	Small Intestine	intestine
17	chr2:191391200-191398600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:191392400-191396000	Enhancers	HepG2	liver
19	chr2:191392400-191397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:191392600-191397000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:191392600-191397400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:191392800-191396200	Enhancers	Fetal Intestine Large	intestine
23	chr2:191392800-191396400	Enhancers	K562	blood
24	chr2:191393000-191395800	Enhancers	Primary B cells from cord blood	blood
25	chr2:191393000-191395800	Enhancers	Stomach Mucosa	stomach
26	chr2:191393000-191396200	Enhancers	Fetal Intestine Small	intestine
27	chr2:191393000-191397800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:191393200-191396200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:191393200-191398000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:191393200-191398200	Enhancers	Primary hematopoietic stem cells	blood
31	chr2:191393200-191398600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:191393400-191398600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:191393400-191398600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:191393400-191398600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:191393600-191398400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:191393600-191398600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:191393800-191398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:191394000-191395800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:191394000-191396200	Enhancers	Fetal Heart	heart
40	chr2:191394000-191396200	Enhancers	Left Ventricle	heart
41	chr2:191394000-191396200	Enhancers	Right Atrium	heart
42	chr2:191394000-191396400	Enhancers	Fetal Thymus	thymus
43	chr2:191394000-191398000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr2:191394000-191398200	Enhancers	Fetal Lung	lung
45	chr2:191394200-191396200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:191394200-191398200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr2:191394400-191395800	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:191394400-191395800	Enhancers	Fetal Muscle Leg	muscle
49	chr2:191394400-191396200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr2:191394400-191396200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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