Variant report

Variant	rs12344584
Chromosome Location	chr9:97787336-97787337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97682865..97685291-chr9:97786421..97788402,2	MCF-7	breast:
2	chr9:97780463..97782109-chr9:97785824..97787667,2	K562	blood:
3	chr9:97785869..97788341-chr9:97791572..97794035,3	MCF-7	breast:
4	chr9:97786821..97789606-chr9:97794967..97796572,3	K562	blood:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10761368	0.88[JPT][hapmap]
rs10821433	0.90[CHB][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10993456	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993457	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993460	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12337251	0.80[EUR][1000 genomes]
rs12339639	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340107	0.80[EUR][1000 genomes]
rs12346261	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7023719	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs7046845	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72621414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97769000-97787600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:97769600-97790200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:97770800-97810000	Weak transcription	Primary T cells from cord blood	blood
4	chr9:97773200-97793200	Weak transcription	Brain Germinal Matrix	brain
5	chr9:97777400-97794200	Weak transcription	Thymus	Thymus
6	chr9:97779400-97789200	Genic enhancers	Liver	Liver
7	chr9:97780200-97788000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:97780200-97788200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:97780600-97790800	Weak transcription	Fetal Brain Female	brain
10	chr9:97781200-97787400	Genic enhancers	NHLF	lung
11	chr9:97781200-97793600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:97781400-97793200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:97781400-97793600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:97782000-97792800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:97782600-97793600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr9:97782800-97787600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr9:97783200-97789400	Enhancers	Brain Substantia Nigra	brain
18	chr9:97783400-97789000	Transcr. at gene 5' and 3'	A549	lung
19	chr9:97783600-97794000	Weak transcription	GM12878-XiMat	blood
20	chr9:97783800-97789000	Genic enhancers	HSMMtube	muscle
21	chr9:97783800-97789600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:97784200-97787600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:97784200-97789200	Enhancers	Brain Hippocampus Middle	brain
24	chr9:97784400-97787400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:97784400-97788800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr9:97784400-97789000	Genic enhancers	NHEK	skin
27	chr9:97784600-97789000	Enhancers	Brain Cingulate Gyrus	brain
28	chr9:97785000-97787800	Genic enhancers	Fetal Stomach	stomach
29	chr9:97785000-97788400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:97785000-97789000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:97785000-97789200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:97785000-97789200	Enhancers	Fetal Kidney	kidney
33	chr9:97785200-97787400	Enhancers	Pancreas	Pancrea
34	chr9:97785200-97787800	Enhancers	Psoas Muscle	Psoas
35	chr9:97785200-97787800	Enhancers	Spleen	Spleen
36	chr9:97785200-97788000	Enhancers	Colonic Mucosa	Colon
37	chr9:97785200-97788200	Enhancers	Fetal Muscle Trunk	muscle
38	chr9:97785200-97788200	Enhancers	Ovary	ovary
39	chr9:97785200-97788200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr9:97785200-97788800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:97785200-97788800	Enhancers	Adipose Nuclei	Adipose
42	chr9:97785200-97789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:97785200-97789000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:97785200-97789000	Enhancers	Brain Anterior Caudate	brain
45	chr9:97785200-97789000	Genic enhancers	Fetal Intestine Small	intestine
46	chr9:97785400-97787400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr9:97785400-97788200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:97785400-97788200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:97785400-97788400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:97785400-97788600	Enhancers	Brain Angular Gyrus	brain

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