Variant report

Variant	rs12002044
Chromosome Location	chr9:96389861-96389862
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	chr9:96389762..96391845-chr9:96392211..96394395,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10122270	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10761244	0.81[ASN][1000 genomes]
rs10761245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761247	0.87[CHB][hapmap]
rs10761249	0.96[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10821184	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821187	0.91[ASN][1000 genomes]
rs10821188	0.90[ASN][1000 genomes]
rs10821189	0.90[ASN][1000 genomes]
rs10821190	0.89[ASN][1000 genomes]
rs10821191	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10821196	0.84[CHB][hapmap]
rs10992807	0.84[CHB][hapmap]
rs10992839	0.82[CEU][hapmap]
rs10992854	0.82[CHB][hapmap]
rs11534279	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs11793637	0.91[CHB][hapmap]
rs1806458	0.83[CHB][hapmap]
rs2001315	0.94[ASN][1000 genomes]
rs2001589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2398855	0.87[CHB][hapmap]
rs2398856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3750354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3750358	0.83[CHB][hapmap]
rs3750362	0.83[CHB][hapmap]
rs6479499	0.83[CHB][hapmap]
rs7024028	0.83[CHB][hapmap]
rs7849752	0.95[CHB][hapmap]
rs7851178	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7851271	0.90[ASN][1000 genomes]
rs7864397	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7865712	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs7868191	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040891	chr9:96361529-96397338	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1044461	chr9:96362048-96397338	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv893585	chr9:96363859-96403367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv893586	chr9:96363859-96493773	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1055035	chr9:96372269-96402747	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1036609	chr9:96375217-96477641	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv519449	chr9:96382100-96395429	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv893587	chr9:96383605-96451784	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
4	chr9:96374600-96399800	Weak transcription	K562	blood
5	chr9:96375200-96391800	Weak transcription	Colonic Mucosa	Colon
6	chr9:96375600-96390000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:96375800-96390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:96376200-96393000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:96376400-96390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:96376600-96390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:96379600-96390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:96379600-96390000	Weak transcription	Aorta	Aorta
13	chr9:96379800-96391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:96380200-96411800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:96380800-96390000	Weak transcription	Thymus	Thymus
16	chr9:96380800-96399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:96382800-96391600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:96384000-96396400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:96384400-96390000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:96384400-96391800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr9:96384600-96393600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr9:96384600-96412200	Weak transcription	Stomach Mucosa	stomach
23	chr9:96384800-96390000	Weak transcription	Fetal Intestine Small	intestine
24	chr9:96384800-96391600	Weak transcription	Gastric	stomach
25	chr9:96385000-96390200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:96385400-96392000	Weak transcription	Pancreas	Pancrea
27	chr9:96385800-96392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:96386400-96390000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr9:96386400-96392200	Weak transcription	Ovary	ovary
30	chr9:96386600-96392200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:96386800-96390000	Weak transcription	Spleen	Spleen
32	chr9:96386800-96391800	Weak transcription	Right Ventricle	heart
33	chr9:96386800-96392000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:96387000-96390000	Weak transcription	Dnd41	blood
35	chr9:96387000-96411800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr9:96387200-96392400	Weak transcription	Left Ventricle	heart
37	chr9:96387200-96399800	Weak transcription	Fetal Heart	heart
38	chr9:96387600-96399600	Weak transcription	Fetal Kidney	kidney
39	chr9:96389200-96390000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr9:96389200-96390800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr9:96389600-96390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:96389800-96390600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr9:96389800-96390600	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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