Variant report

Variant	rs7554913
Chromosome Location	chr1:176008112-176008113
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	chr1:176007125..176010101-chr1:176013054..176015518,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10429845	0.83[AFR][1000 genomes]
rs10494499	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs10798427	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs10798428	0.85[EUR][1000 genomes]
rs10798430	1.00[CHB][hapmap]
rs10798435	1.00[CHB][hapmap]
rs10913150	0.91[CEU][hapmap];0.92[TSI][hapmap]
rs11576862	0.87[ASN][1000 genomes]
rs11579181	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11580753	0.87[ASN][1000 genomes]
rs11583071	0.87[ASN][1000 genomes]
rs11584481	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11587254	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11587785	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11588480	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11590045	0.87[ASN][1000 genomes]
rs12038027	0.83[EUR][1000 genomes]
rs12403794	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12404181	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1357337	0.91[CEU][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs1357338	1.00[CHB][hapmap]
rs17351808	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17351933	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17352072	0.82[AMR][1000 genomes]
rs17354252	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2481627	0.91[CEU][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs2481632	1.00[CHB][hapmap]
rs2481634	0.81[EUR][1000 genomes]
rs2481635	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2481640	1.00[CHB][hapmap]
rs2481647	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs2481648	1.00[CHB][hapmap]
rs2481651	0.92[EUR][1000 genomes]
rs2481657	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs2502821	1.00[CHB][hapmap]
rs2502822	0.91[CEU][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs2502826	0.91[CEU][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs2502827	1.00[CHB][hapmap]
rs2502828	1.00[CHB][hapmap]
rs2502830	0.81[EUR][1000 genomes]
rs2502832	0.91[CEU][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs2502836	0.91[CEU][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs2502837	1.00[CHB][hapmap]
rs2502841	0.91[CEU][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs2502842	0.91[CEU][hapmap]
rs2774925	1.00[CHB][hapmap]
rs2861630	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4129061	0.90[CEU][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4233165	1.00[CHB][hapmap]
rs4307526	0.87[EUR][1000 genomes]
rs4314844	0.87[EUR][1000 genomes]
rs4344283	1.00[CHB][hapmap]
rs4347169	1.00[CHB][hapmap]
rs4379645	1.00[CHB][hapmap]
rs4460596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534339	1.00[CHB][hapmap]
rs4601543	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs533299	1.00[CHB][hapmap]
rs537407	1.00[CHB][hapmap]
rs553852	0.91[CEU][hapmap]
rs56051510	0.87[ASN][1000 genomes]
rs56198111	0.87[ASN][1000 genomes]
rs56949697	0.87[ASN][1000 genomes]
rs580978	0.91[CEU][hapmap]
rs598855	1.00[CHB][hapmap]
rs60719126	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60964243	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61186664	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs613965	1.00[CHB][hapmap]
rs61820953	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61820960	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61820965	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61820968	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61820999	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61821007	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61821009	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61821028	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61822662	0.82[AMR][1000 genomes]
rs61822767	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6425368	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs6425369	1.00[CHB][hapmap]
rs6425372	1.00[CHB][hapmap]
rs6425374	1.00[CHB][hapmap]
rs646754	1.00[CHB][hapmap]
rs6674353	1.00[CHB][hapmap]
rs6680309	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6704250	1.00[CHB][hapmap]
rs6704509	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs704827	0.91[CEU][hapmap];0.84[TSI][hapmap]
rs704828	1.00[CHB][hapmap]
rs704833	1.00[CHB][hapmap]
rs74127150	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74127154	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7517351	0.91[CEU][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs7523048	1.00[CHB][hapmap]
rs7524972	0.83[EUR][1000 genomes]
rs7525112	1.00[CHB][hapmap]
rs7532122	1.00[CHB][hapmap]
rs7537435	0.81[EUR][1000 genomes]
rs7541563	1.00[CHB][hapmap]
rs7545043	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs7545639	0.87[EUR][1000 genomes]
rs7552181	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs791744	0.91[CEU][hapmap]
rs791748	1.00[CHB][hapmap]
rs791801	0.83[CEU][hapmap];0.92[TSI][hapmap]
rs9783047	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs998631	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1835152	chr1:175996260-176012807	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:175974600-176014200	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
4	chr1:175976400-176014400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:175976600-176009400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
8	chr1:175978400-176014000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:175978400-176014800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:175979200-176011800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:175979400-176009200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:175979400-176012200	Weak transcription	HepG2	liver
15	chr1:175979600-176010600	Weak transcription	Right Ventricle	heart
16	chr1:175979600-176012000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:175979800-176014400	Weak transcription	Brain Substantia Nigra	brain
19	chr1:175980200-176028000	Weak transcription	K562	blood
20	chr1:175981400-176009200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:175982000-176009800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:175982200-176009400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:175982200-176009400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:175982200-176012200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:175983400-176010600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:175988400-176009400	Weak transcription	Lung	lung
27	chr1:175989000-176009400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:175989000-176009600	Weak transcription	Esophagus	oesophagus
29	chr1:175989400-176009400	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:175989800-176009400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:175989800-176009400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:175989800-176010600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:175989800-176010600	Weak transcription	Spleen	Spleen
34	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
35	chr1:175990200-176009400	Weak transcription	Gastric	stomach
36	chr1:175990400-176008800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
38	chr1:175996800-176009400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:175998200-176009400	Weak transcription	Left Ventricle	heart
40	chr1:175998200-176009400	Weak transcription	Ovary	ovary
41	chr1:175999000-176017000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:175999200-176008600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr1:176000600-176014800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:176001800-176016200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:176002000-176009600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:176002000-176010600	Weak transcription	Thymus	Thymus
47	chr1:176002400-176012400	Weak transcription	Colonic Mucosa	Colon
48	chr1:176003600-176014600	Weak transcription	NH-A	brain
49	chr1:176003600-176016200	Weak transcription	HMEC	breast
50	chr1:176003800-176010600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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