Variant report

Variant	rs10993456
Chromosome Location	chr9:97783630-97783631
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	chr9:97765071..97767480-chr9:97781588..97784169,2	K562	blood:
2	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10119512	0.82[TSI][hapmap]
rs1020963	0.90[JPT][hapmap];0.82[TSI][hapmap]
rs10217737	0.82[CEU][hapmap]
rs10761364	0.82[TSI][hapmap]
rs10761368	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs10821433	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10993381	0.82[CEU][hapmap]
rs10993390	1.00[CEU][hapmap]
rs10993391	1.00[CEU][hapmap]
rs10993457	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993460	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12337251	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs12339639	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340107	0.85[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs12344052	0.82[CEU][hapmap]
rs12344584	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]
rs12346261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12349263	1.00[CEU][hapmap]
rs1412488	0.90[JPT][hapmap]
rs1571895	0.82[TSI][hapmap]
rs2404305	0.82[TSI][hapmap]
rs4743984	0.82[TSI][hapmap]
rs4744422	0.90[JPT][hapmap]
rs4744426	0.82[TSI][hapmap]
rs4744431	0.90[JPT][hapmap]
rs6479588	0.90[JPT][hapmap]
rs6479591	0.82[TSI][hapmap]
rs7021351	0.82[TSI][hapmap]
rs7022452	0.82[TSI][hapmap]
rs7023719	0.93[YRI][hapmap]
rs7046845	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7048786	0.82[TSI][hapmap]
rs7048941	0.82[TSI][hapmap]
rs72621414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7862156	0.82[TSI][hapmap]
rs7863291	0.82[TSI][hapmap]

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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97768000-97783800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr9:97768000-97786200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:97768800-97785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:97769000-97783800	Weak transcription	Fetal Brain Male	brain
5	chr9:97769000-97787600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:97769600-97784200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:97769600-97790200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:97770800-97810000	Weak transcription	Primary T cells from cord blood	blood
9	chr9:97773200-97793200	Weak transcription	Brain Germinal Matrix	brain
10	chr9:97776000-97784400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr9:97776000-97784600	Strong transcription	Placenta	Placenta
12	chr9:97776400-97785400	Strong transcription	Fetal Intestine Large	intestine
13	chr9:97777400-97794200	Weak transcription	Thymus	Thymus
14	chr9:97778800-97786200	Genic enhancers	Osteobl	bone
15	chr9:97779400-97789200	Genic enhancers	Liver	Liver
16	chr9:97780200-97785200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:97780200-97788000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:97780200-97788200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:97780600-97786600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:97780600-97790800	Weak transcription	Fetal Brain Female	brain
21	chr9:97780800-97784400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:97780800-97786000	Genic enhancers	Left Ventricle	heart
23	chr9:97781000-97784200	Strong transcription	Hela-S3	cervix
24	chr9:97781000-97786400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:97781200-97785600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:97781200-97786400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:97781200-97787400	Genic enhancers	NHLF	lung
28	chr9:97781200-97793600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:97781400-97784600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:97781400-97785400	Genic enhancers	HSMM	muscle
31	chr9:97781400-97786200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:97781400-97793200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:97781400-97793600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:97781600-97783800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr9:97781600-97784200	Genic enhancers	Ovary	ovary
36	chr9:97781600-97784200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr9:97781600-97784600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:97781600-97784600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:97781600-97784600	Strong transcription	Colonic Mucosa	Colon
40	chr9:97781600-97784800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr9:97781600-97785000	Weak transcription	Small Intestine	intestine
42	chr9:97781600-97785400	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr9:97781600-97785400	Genic enhancers	NHDF-Ad	bronchial
44	chr9:97781600-97786200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:97781600-97787000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:97781600-97787200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr9:97781800-97784200	Genic enhancers	Brain Hippocampus Middle	brain
48	chr9:97781800-97784200	Enhancers	Right Atrium	heart
49	chr9:97781800-97784400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr9:97781800-97784400	Genic enhancers	HMEC	breast

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