Variant report

Variant	rs10993293
Chromosome Location	chr9:97432137-97432138
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97429455..97432158-chr9:97487804..97490405,2	MCF-7	breast:
2	chr9:97316595..97318238-chr9:97430953..97432955,2	MCF-7	breast:
3	chr9:97426120..97427980-chr9:97431313..97433005,2	MCF-7	breast:
4	chr9:97400839..97403721-chr9:97429734..97432709,4	MCF-7	breast:
5	chr9:97413279..97414957-chr9:97431103..97432914,2	MCF-7	breast:
6	chr9:97431591..97434425-chr9:97442204..97443776,2	MCF-7	breast:
7	chr9:97392176..97395070-chr9:97431603..97433493,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction
ENSG00000165140	Chromatin interaction
ENSG00000231806	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10821385	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10993302	0.85[EUR][1000 genomes]
rs12554486	0.86[EUR][1000 genomes]
rs12684995	0.85[EUR][1000 genomes]
rs4743965	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744368	0.86[EUR][1000 genomes]
rs7847004	0.86[EUR][1000 genomes]
rs7847107	0.86[EUR][1000 genomes]
rs7870801	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv893597	chr9:97380597-97463435	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97429400-97436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:97431200-97432200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:97431200-97432200	Active TSS	Primary T cells fromperipheralblood	blood
4	chr9:97431200-97432200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr9:97431200-97432200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:97431200-97432200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr9:97431200-97432600	Active TSS	A549	lung
8	chr9:97431400-97432200	Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr9:97431400-97432200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr9:97431600-97432200	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr9:97431600-97432400	Active TSS	Placenta	Placenta
12	chr9:97431600-97434800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:97431600-97436800	Weak transcription	HSMMtube	muscle
14	chr9:97431600-97437200	Weak transcription	Fetal Kidney	kidney
15	chr9:97431800-97432200	Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr9:97431800-97432200	Active TSS	Liver	Liver
17	chr9:97431800-97432200	Active TSS	Colonic Mucosa	Colon
18	chr9:97431800-97432200	Active TSS	Duodenum Mucosa	Duodenum
19	chr9:97431800-97432200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:97431800-97432200	Enhancers	Fetal Intestine Small	intestine
21	chr9:97431800-97432200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr9:97431800-97432200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr9:97431800-97432200	Active TSS	Dnd41	blood
24	chr9:97431800-97432200	Active TSS	HepG2	liver
25	chr9:97431800-97432400	Active TSS	K562	blood
26	chr9:97431800-97432800	Active TSS	Hela-S3	cervix
27	chr9:97431800-97434400	Weak transcription	NHDF-Ad	bronchial
28	chr9:97431800-97434800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:97431800-97435000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:97431800-97435000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:97431800-97435000	Weak transcription	NH-A	brain
32	chr9:97431800-97435000	Weak transcription	NHLF	lung
33	chr9:97431800-97435200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:97431800-97435200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr9:97431800-97435200	Weak transcription	HSMM	muscle
36	chr9:97431800-97435200	Weak transcription	HUVEC	blood vessel
37	chr9:97431800-97435600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:97431800-97435600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:97431800-97437000	Weak transcription	Adipose Nuclei	Adipose
40	chr9:97431800-97441000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:97432000-97432200	Enhancers	Fetal Thymus	thymus
42	chr9:97432000-97432200	Flanking Active TSS	Right Atrium	heart
43	chr9:97432000-97432400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr9:97432000-97435000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:97432000-97435000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:97432000-97435000	Weak transcription	HMEC	breast
47	chr9:97432000-97435000	Weak transcription	NHEK	skin
48	chr9:97432000-97435000	Weak transcription	Osteobl	bone
49	chr9:97432000-97438600	Weak transcription	Ovary	ovary

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