Variant report

Variant	rs12096987
Chromosome Location	chr1:185201061-185201062
allele	C/T
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: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10218496	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10453829	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10489579	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10489580	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10798000	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10798003	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10798004	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs10911693	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10911700	0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12024023	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs12028408	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12045671	0.82[EUR][1000 genomes]
rs12118722	0.98[EUR][1000 genomes]
rs12119471	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12120377	0.96[EUR][1000 genomes]
rs12127840	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12135172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12135769	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12136040	0.84[ASN][1000 genomes]
rs12404187	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1336752	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1336753	0.83[ASN][1000 genomes]
rs1415072	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1591585	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1889976	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1969750	0.83[EUR][1000 genomes]
rs2025227	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2050566	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2095610	0.82[ASN][1000 genomes]
rs2146328	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2383269	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34611062	0.84[ASN][1000 genomes]
rs3766717	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57188163	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57731138	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57977436	0.84[ASN][1000 genomes]
rs6424972	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6424974	0.98[EUR][1000 genomes]
rs6424975	0.95[JPT][hapmap]
rs6660169	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6666742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6670117	0.82[EUR][1000 genomes]
rs6673303	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6682891	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs6698109	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs6698122	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7512245	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7512290	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7522617	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7533198	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7535064	0.96[EUR][1000 genomes]
rs7535261	0.91[EUR][1000 genomes]
rs7537341	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7539575	0.88[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7539658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7542721	0.84[ASN][1000 genomes]
rs7543962	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7550586	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7550599	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7552662	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7553819	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556183	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs951428	1.00[CEU][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:55 , 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	chr1:185168000-185201800	Weak transcription	Primary T cells from cord blood	blood
5	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
6	chr1:185174000-185207200	Weak transcription	NHDF-Ad	bronchial
7	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
8	chr1:185177800-185202600	Weak transcription	Fetal Kidney	kidney
9	chr1:185178400-185208600	Weak transcription	Small Intestine	intestine
10	chr1:185190200-185204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:185190600-185201600	Weak transcription	Spleen	Spleen
12	chr1:185192200-185201400	Weak transcription	Brain Anterior Caudate	brain
13	chr1:185192400-185206200	Weak transcription	Brain Substantia Nigra	brain
14	chr1:185192400-185208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:185192400-185209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:185192600-185204800	Weak transcription	Fetal Brain Female	brain
17	chr1:185192600-185205800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:185192600-185207400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:185192600-185218600	Weak transcription	Aorta	Aorta
20	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
21	chr1:185193200-185201600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:185193200-185203200	Weak transcription	Placenta	Placenta
23	chr1:185193400-185201400	Weak transcription	Brain Germinal Matrix	brain
24	chr1:185193400-185208000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:185193600-185201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:185193600-185201600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:185193600-185202200	Weak transcription	Primary B cells from cord blood	blood
28	chr1:185193600-185203800	Weak transcription	Fetal Intestine Large	intestine
29	chr1:185193600-185203800	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:185193600-185204000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:185193600-185208000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:185193600-185213200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:185193600-185213400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:185193600-185214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:185193600-185219200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:185193600-185219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:185193800-185205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:185193800-185206200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:185193800-185206400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:185193800-185220400	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:185194000-185218600	Weak transcription	Lung	lung
43	chr1:185194200-185202400	Weak transcription	Fetal Lung	lung
44	chr1:185194200-185213400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:185196600-185209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:185197200-185218200	Weak transcription	Left Ventricle	heart
47	chr1:185197600-185220400	Weak transcription	Ovary	ovary
48	chr1:185198800-185210400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:185199800-185213200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:185200600-185201600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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