Variant report

Variant	rs7868125
Chromosome Location	chr9:110079186-110079187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:110045249..110048106-chr9:110077151..110079767,3	MCF-7	breast:
2	chr9:110070353..110073170-chr9:110078217..110082315,4	MCF-7	breast:
3	chr9:110044399..110049612-chr9:110071012..110080286,12	K562	blood:
4	chr9:110044605..110047075-chr9:110077754..110080578,5	MCF-7	breast:
5	chr9:110079143..110082107-chr9:110082961..110085070,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11573632	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11573658	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11573690	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573699	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16912336	1.00[GIH][hapmap]
rs16912374	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4987204	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55797242	1.00[AFR][1000 genomes]
rs57037569	1.00[AFR][1000 genomes]
rs58624985	1.00[AFR][1000 genomes]
rs60543725	1.00[AFR][1000 genomes]
rs73515717	0.96[AFR][1000 genomes]
rs73515784	1.00[AFR][1000 genomes]
rs73515799	1.00[AFR][1000 genomes]
rs73517707	1.00[AFR][1000 genomes]
rs73517771	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73517788	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73517791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73517793	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7850955	1.00[YRI][hapmap];1.00[AFR][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	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv519266	chr9:110049477-110085255	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7868125	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110051600-110079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:110057200-110079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:110058600-110098600	Weak transcription	Small Intestine	intestine
4	chr9:110061400-110094600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:110063000-110079200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:110063800-110079200	Strong transcription	Osteobl	bone
7	chr9:110063800-110079400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:110064000-110085000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:110065200-110089200	Strong transcription	Fetal Thymus	thymus
10	chr9:110065600-110098600	Strong transcription	Dnd41	blood
11	chr9:110070200-110104400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:110070400-110085000	Weak transcription	Colonic Mucosa	Colon
13	chr9:110070400-110099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:110070600-110079400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:110071400-110084000	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:110071400-110103000	Weak transcription	Stomach Mucosa	stomach
17	chr9:110071800-110079800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:110071800-110084400	Weak transcription	Colon Smooth Muscle	Colon
19	chr9:110073800-110080000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:110074200-110082600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:110074200-110083000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr9:110074200-110083200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:110074200-110088200	Strong transcription	Fetal Intestine Large	intestine
24	chr9:110075000-110079200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:110075000-110079200	Strong transcription	HSMM	muscle
26	chr9:110075000-110079200	Weak transcription	HSMMtube	muscle
27	chr9:110075000-110080200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:110075000-110084800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:110075000-110088000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:110075200-110079200	Weak transcription	Brain Angular Gyrus	brain
31	chr9:110075200-110079200	Weak transcription	Pancreas	Pancrea
32	chr9:110075200-110079200	Weak transcription	Psoas Muscle	Psoas
33	chr9:110075200-110079200	Weak transcription	Right Atrium	heart
34	chr9:110075200-110079600	Weak transcription	Aorta	Aorta
35	chr9:110075200-110084800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:110075200-110084800	Weak transcription	Spleen	Spleen
37	chr9:110075200-110090600	Weak transcription	Right Ventricle	heart
38	chr9:110075200-110093400	Weak transcription	Esophagus	oesophagus
39	chr9:110075400-110079200	Weak transcription	Ovary	ovary
40	chr9:110075800-110079200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:110075800-110079200	Weak transcription	Gastric	stomach
42	chr9:110076000-110089400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr9:110076200-110079200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:110076200-110079400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr9:110076200-110084600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr9:110076200-110087800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:110076400-110080600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr9:110076400-110084000	Weak transcription	Hela-S3	cervix
49	chr9:110076400-110084600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr9:110076800-110079200	Weak transcription	H9 Cell Line	embryonic stem cell

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