Variant report

Variant	rs2481630
Chromosome Location	chr1:176083411-176083412
allele	A/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:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10494495	0.86[JPT][hapmap]
rs10753117	0.91[JPT][hapmap]
rs10798425	0.86[JPT][hapmap]
rs10798434	0.86[JPT][hapmap]
rs10798442	0.91[JPT][hapmap]
rs10798445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798446	0.87[JPT][hapmap]
rs10913117	0.86[JPT][hapmap]
rs10913118	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs10913135	0.86[JPT][hapmap]
rs10913137	0.87[JPT][hapmap]
rs10913143	0.87[JPT][hapmap]
rs10913144	0.87[JPT][hapmap]
rs10913147	0.87[JPT][hapmap]
rs11810706	0.95[CEU][hapmap];0.86[JPT][hapmap]
rs12029090	0.90[JPT][hapmap]
rs12033847	0.91[JPT][hapmap]
rs12049077	0.87[JPT][hapmap]
rs12138008	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs12404596	0.91[JPT][hapmap]
rs12723724	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12729524	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16849486	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs17354120	0.86[JPT][hapmap]
rs191606	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs1974142	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2039230	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2175177	0.90[JPT][hapmap]
rs2457418	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2481628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2481646	0.84[EUR][1000 genomes]
rs2481655	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs2481662	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2487144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2502823	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs2502829	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2502831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2502845	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3962371	0.82[CEU][hapmap];0.83[JPT][hapmap]
rs4409605	0.86[JPT][hapmap]
rs501142	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs513354	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs520661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs542742	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs596859	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs617078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs659279	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6665385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6678628	0.87[JPT][hapmap]
rs6678812	0.86[JPT][hapmap]
rs668154	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6697860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs670143	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs679728	0.86[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs704829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs704834	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs7517503	0.86[JPT][hapmap]
rs7535769	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs7549160	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs791743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791746	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791747	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs791750	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791752	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs813180	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9425447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs944365	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176048800-176107000	Weak transcription	HepG2	liver
2	chr1:176054400-176131600	Weak transcription	NH-A	brain
3	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
4	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
5	chr1:176068600-176087600	Weak transcription	NHLF	lung
6	chr1:176069000-176090200	Weak transcription	Fetal Kidney	kidney
7	chr1:176069000-176116400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:176069200-176084400	Weak transcription	Psoas Muscle	Psoas
10	chr1:176069200-176087200	Weak transcription	Right Ventricle	heart
11	chr1:176069200-176123200	Weak transcription	Osteobl	bone
12	chr1:176069200-176126600	Weak transcription	HMEC	breast
13	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
14	chr1:176069400-176121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:176070200-176087600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:176070400-176084600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:176070400-176087400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:176070400-176087600	Weak transcription	Spleen	Spleen
19	chr1:176070400-176091600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:176070400-176097800	Weak transcription	A549	lung
21	chr1:176070400-176107400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:176070400-176126400	Weak transcription	Brain Anterior Caudate	brain
23	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
24	chr1:176070600-176087800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:176070800-176102200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:176070800-176102600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:176070800-176110600	Weak transcription	Small Intestine	intestine
28	chr1:176071000-176085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:176071000-176091600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:176071600-176086000	Strong transcription	Primary B cells from cord blood	blood
31	chr1:176071600-176088600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:176071600-176117800	Weak transcription	Gastric	stomach
33	chr1:176072000-176140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:176072400-176084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:176072400-176087600	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:176072400-176108600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:176072600-176085000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:176072600-176107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:176072800-176085000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:176072800-176114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:176072800-176114800	Weak transcription	NHDF-Ad	bronchial
42	chr1:176072800-176126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:176073400-176084600	Weak transcription	Lung	lung
44	chr1:176076000-176084400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:176076200-176083600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:176076200-176083600	Weak transcription	Fetal Stomach	stomach
47	chr1:176076200-176083800	Weak transcription	Thymus	Thymus
48	chr1:176076200-176084000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:176076200-176084400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:176076200-176084600	Weak transcription	Duodenum Mucosa	Duodenum

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