Variant report

Variant	rs2481634
Chromosome Location	chr1:176082200-176082201
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176082187..176085004-chr1:176089013..176091231,2	K562	blood:
2	chr1:176077424..176078957-chr1:176081376..176083249,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10494499	0.86[EUR][1000 genomes]
rs10798427	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10798428	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10913150	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11576471	0.87[ASN][1000 genomes]
rs12038027	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12403794	0.88[EUR][1000 genomes]
rs1357337	0.84[AMR][1000 genomes]
rs16849645	0.82[ASN][1000 genomes]
rs17351933	0.88[EUR][1000 genomes]
rs17352072	0.86[EUR][1000 genomes]
rs17354252	0.85[EUR][1000 genomes]
rs1770643	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1831447	0.81[ASN][1000 genomes]
rs2039231	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2039232	0.81[ASN][1000 genomes]
rs2481627	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481635	0.93[EUR][1000 genomes]
rs2481639	0.81[ASN][1000 genomes]
rs2481641	0.90[ASN][1000 genomes]
rs2481642	0.83[ASN][1000 genomes]
rs2481647	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2481651	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2481657	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2502822	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2502826	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2502830	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2502832	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502834	1.00[ASN][1000 genomes]
rs2502835	1.00[ASN][1000 genomes]
rs2502836	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502841	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502842	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2502847	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4129061	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4307526	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4314844	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4603086	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4650934	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs471534	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs533403	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs553852	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs559341	0.81[ASN][1000 genomes]
rs56367284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs580978	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58325269	0.81[ASN][1000 genomes]
rs598177	0.81[ASN][1000 genomes]
rs599326	0.81[ASN][1000 genomes]
rs602933	0.81[ASN][1000 genomes]
rs60719126	0.91[EUR][1000 genomes]
rs611883	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61821007	0.91[EUR][1000 genomes]
rs61821009	0.91[EUR][1000 genomes]
rs61821028	0.88[EUR][1000 genomes]
rs61821029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61822662	0.86[EUR][1000 genomes]
rs6425368	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6684747	0.86[AMR][1000 genomes]
rs6704509	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs704825	0.81[ASN][1000 genomes]
rs704827	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs704832	0.85[ASN][1000 genomes]
rs74127185	0.87[EUR][1000 genomes]
rs7517351	0.81[AMR][1000 genomes]
rs7524972	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7537435	0.84[AMR][1000 genomes]
rs7545043	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7545639	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7546538	0.90[ASN][1000 genomes]
rs7552181	0.84[AMR][1000 genomes]
rs7554913	0.81[EUR][1000 genomes]
rs791744	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791795	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs791800	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs791801	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs796933	0.81[ASN][1000 genomes]
rs9783047	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:176048800-176107000	Weak transcription	HepG2	liver
3	chr1:176054400-176131600	Weak transcription	NH-A	brain
4	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
5	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
6	chr1:176068600-176087600	Weak transcription	NHLF	lung
7	chr1:176069000-176090200	Weak transcription	Fetal Kidney	kidney
8	chr1:176069000-176116400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:176069200-176082400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:176069200-176084400	Weak transcription	Psoas Muscle	Psoas
12	chr1:176069200-176087200	Weak transcription	Right Ventricle	heart
13	chr1:176069200-176123200	Weak transcription	Osteobl	bone
14	chr1:176069200-176126600	Weak transcription	HMEC	breast
15	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
16	chr1:176069400-176121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:176070200-176087600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:176070400-176082400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:176070400-176082800	Weak transcription	K562	blood
20	chr1:176070400-176083200	Weak transcription	Colonic Mucosa	Colon
21	chr1:176070400-176083200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:176070400-176084600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:176070400-176087400	Weak transcription	Brain Substantia Nigra	brain
24	chr1:176070400-176087600	Weak transcription	Spleen	Spleen
25	chr1:176070400-176091600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:176070400-176097800	Weak transcription	A549	lung
27	chr1:176070400-176107400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:176070400-176126400	Weak transcription	Brain Anterior Caudate	brain
29	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
30	chr1:176070600-176082200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:176070600-176087800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:176070800-176102200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:176070800-176102600	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:176070800-176110600	Weak transcription	Small Intestine	intestine
35	chr1:176071000-176082800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:176071000-176082800	Weak transcription	Fetal Lung	lung
37	chr1:176071000-176085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:176071000-176091600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:176071600-176086000	Strong transcription	Primary B cells from cord blood	blood
40	chr1:176071600-176088600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:176071600-176117800	Weak transcription	Gastric	stomach
42	chr1:176072000-176140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:176072400-176084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:176072400-176087600	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:176072400-176108600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:176072600-176085000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:176072600-176107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:176072800-176085000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:176072800-176114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:176072800-176114800	Weak transcription	NHDF-Ad	bronchial

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