Variant report

Variant	rs1591585
Chromosome Location	chr1:185194371-185194372
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	chr1:185192647..185194697-chr1:185200428..185202815,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10218496	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10453829	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1046592	0.86[CHB][hapmap]
rs10489579	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10489580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10797998	0.86[CHB][hapmap]
rs10797999	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10798000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911693	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12024023	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12028408	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12045671	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12086086	0.86[CHB][hapmap]
rs12096987	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12118722	0.87[EUR][1000 genomes]
rs12119471	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12120377	0.85[EUR][1000 genomes]
rs12127840	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12135172	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12141722	0.91[EUR][1000 genomes]
rs12404187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12404644	0.86[CHB][hapmap]
rs1336752	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1415072	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1544052	0.86[CHB][hapmap]
rs1969750	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2025227	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2050566	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2146328	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2146329	0.82[CHB][hapmap]
rs2383269	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3766717	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57188163	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57731138	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6424974	0.87[EUR][1000 genomes]
rs6660169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6666742	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6670117	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6673303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698109	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6698122	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7512245	0.85[EUR][1000 genomes]
rs7512290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7519019	0.81[JPT][hapmap]
rs7522617	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7533198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7535064	0.85[EUR][1000 genomes]
rs7535261	0.81[EUR][1000 genomes]
rs7539658	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7543962	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7550586	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7550599	0.85[EUR][1000 genomes]
rs7552662	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7553819	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7556183	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs951428	0.92[CEU][hapmap];0.87[EUR][1000 genomes]

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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv1846729	chr1:185175837-185194885	Strong transcription Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv946540	chr1:185191105-185200377	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
2	chr1:185128400-185201800	Weak transcription	Gastric	stomach
3	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:185152200-185200800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:185168000-185201800	Weak transcription	Primary T cells from cord blood	blood
6	chr1:185170800-185199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
8	chr1:185174000-185207200	Weak transcription	NHDF-Ad	bronchial
9	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
10	chr1:185177800-185202600	Weak transcription	Fetal Kidney	kidney
11	chr1:185178400-185208600	Weak transcription	Small Intestine	intestine
12	chr1:185183800-185199400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:185185200-185197800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:185188400-185197600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:185190200-185204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:185190600-185201600	Weak transcription	Spleen	Spleen
17	chr1:185191800-185196200	Weak transcription	Fetal Heart	heart
18	chr1:185192200-185201400	Weak transcription	Brain Anterior Caudate	brain
19	chr1:185192400-185199600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:185192400-185200600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:185192400-185206200	Weak transcription	Brain Substantia Nigra	brain
22	chr1:185192400-185208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:185192400-185209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:185192600-185204800	Weak transcription	Fetal Brain Female	brain
25	chr1:185192600-185205800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:185192600-185207400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:185192600-185218600	Weak transcription	Aorta	Aorta
28	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
29	chr1:185193000-185199600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:185193200-185196400	Weak transcription	Ovary	ovary
31	chr1:185193200-185201600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:185193200-185203200	Weak transcription	Placenta	Placenta
33	chr1:185193400-185199000	Weak transcription	Adipose Nuclei	Adipose
34	chr1:185193400-185200600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:185193400-185201400	Weak transcription	Brain Germinal Matrix	brain
36	chr1:185193400-185208000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:185193600-185196200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:185193600-185196800	Weak transcription	Left Ventricle	heart
39	chr1:185193600-185197800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:185193600-185200800	Weak transcription	Liver	Liver
41	chr1:185193600-185201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:185193600-185201600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:185193600-185202200	Weak transcription	Primary B cells from cord blood	blood
44	chr1:185193600-185203800	Weak transcription	Fetal Intestine Large	intestine
45	chr1:185193600-185203800	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:185193600-185204000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:185193600-185208000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:185193600-185213200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:185193600-185213400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:185193600-185214600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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