Variant report

Variant	rs1974142
Chromosome Location	chr1:176075702-176075703
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	chr1:176074166..176076778-chr1:176077523..176081005,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10798445	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12138008	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12144882	0.82[AFR][1000 genomes]
rs12729524	0.83[EUR][1000 genomes]
rs2039230	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2457418	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2481628	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2481630	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2481631	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2481633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2481646	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2481655	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2481658	0.82[AFR][1000 genomes]
rs2481662	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2487144	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2502823	0.84[EUR][1000 genomes]
rs2502829	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2502831	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2502845	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs501142	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs513354	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs520661	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs542742	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs596859	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs617078	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs659279	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6665385	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs668154	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6697860	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs670143	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs704829	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7549160	0.84[EUR][1000 genomes]
rs791743	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs791746	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs791747	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs791750	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs791751	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs791752	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs791753	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs813180	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9425447	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs944365	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
2	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:176048800-176107000	Weak transcription	HepG2	liver
4	chr1:176054400-176131600	Weak transcription	NH-A	brain
5	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
6	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
7	chr1:176066000-176081800	Weak transcription	GM12878-XiMat	blood
8	chr1:176068400-176079200	Weak transcription	Fetal Heart	heart
9	chr1:176068600-176077000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:176068600-176087600	Weak transcription	NHLF	lung
11	chr1:176069000-176080800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:176069000-176090200	Weak transcription	Fetal Kidney	kidney
13	chr1:176069000-176116400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:176069200-176082400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:176069200-176084400	Weak transcription	Psoas Muscle	Psoas
17	chr1:176069200-176087200	Weak transcription	Right Ventricle	heart
18	chr1:176069200-176123200	Weak transcription	Osteobl	bone
19	chr1:176069200-176126600	Weak transcription	HMEC	breast
20	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
21	chr1:176069400-176121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:176069800-176077800	Weak transcription	Stomach Mucosa	stomach
23	chr1:176070200-176081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:176070200-176087600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:176070400-176080800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:176070400-176082400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:176070400-176082800	Weak transcription	K562	blood
28	chr1:176070400-176083200	Weak transcription	Colonic Mucosa	Colon
29	chr1:176070400-176083200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:176070400-176084600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:176070400-176087400	Weak transcription	Brain Substantia Nigra	brain
32	chr1:176070400-176087600	Weak transcription	Spleen	Spleen
33	chr1:176070400-176091600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:176070400-176097800	Weak transcription	A549	lung
35	chr1:176070400-176107400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:176070400-176126400	Weak transcription	Brain Anterior Caudate	brain
37	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
38	chr1:176070600-176082200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:176070600-176087800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:176070800-176079200	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:176070800-176102200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:176070800-176102600	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:176070800-176110600	Weak transcription	Small Intestine	intestine
44	chr1:176071000-176082800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:176071000-176082800	Weak transcription	Fetal Lung	lung
46	chr1:176071000-176085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:176071000-176091600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:176071400-176075800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:176071400-176075800	Weak transcription	Ovary	ovary
50	chr1:176071400-176076200	Strong transcription	Primary B cells from peripheral blood	blood

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