Variant report

Variant	rs10993868
Chromosome Location	chr9:136789678-136789679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:136754087..136756664-chr9:136788614..136790293,2	MCF-7	breast:
2	chr9:136777667..136779284-chr9:136788420..136790198,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10114092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10116423	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10117330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10125207	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10125572	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10821538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10993855	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10993858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10993859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10993867	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12335977	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2428119	1.00[AMR][1000 genomes]
rs2428120	1.00[AMR][1000 genomes]
rs2428121	1.00[AMR][1000 genomes]
rs2486349	1.00[AMR][1000 genomes]
rs2486352	1.00[AMR][1000 genomes]
rs2488562	1.00[AMR][1000 genomes]
rs2492056	0.84[ASN][1000 genomes]
rs2502733	1.00[AMR][1000 genomes]
rs2502753	1.00[AMR][1000 genomes]
rs2502764	1.00[AMR][1000 genomes]
rs2510236	1.00[AMR][1000 genomes]
rs2993799	1.00[AMR][1000 genomes]
rs3003585	1.00[AMR][1000 genomes]
rs55950463	1.00[AMR][1000 genomes]
rs55977312	1.00[AMR][1000 genomes]
rs56908632	1.00[AMR][1000 genomes]
rs57238201	0.84[ASN][1000 genomes]
rs57945847	0.84[ASN][1000 genomes]
rs59975587	1.00[AMR][1000 genomes]
rs7027703	0.84[ASN][1000 genomes]
rs7046600	0.84[ASN][1000 genomes]
rs73662309	1.00[AMR][1000 genomes]
rs73662310	1.00[AMR][1000 genomes]
rs73662321	1.00[AMR][1000 genomes]
rs73662347	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73663862	1.00[AMR][1000 genomes]
rs9409867	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv894127	chr9:136747832-136811772	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv615739	chr9:136761938-136790282	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1046310	chr9:136762829-136872226	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv615741	chr9:136785840-136807283	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136753000-136813200	Weak transcription	Aorta	Aorta
2	chr9:136765800-136797200	Weak transcription	HSMMtube	muscle
3	chr9:136774800-136802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:136777800-136796600	Weak transcription	HUVEC	blood vessel
5	chr9:136778000-136791200	Weak transcription	GM12878-XiMat	blood
6	chr9:136780600-136796800	Weak transcription	Ovary	ovary
7	chr9:136781000-136799400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:136781000-136800400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:136781200-136798600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:136781200-136802200	Weak transcription	Hela-S3	cervix
11	chr9:136781200-136804600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:136781800-136797000	Weak transcription	Esophagus	oesophagus
13	chr9:136782000-136793200	Weak transcription	HMEC	breast
14	chr9:136782000-136809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:136782400-136793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:136782800-136793800	Weak transcription	Gastric	stomach
17	chr9:136782800-136797200	Weak transcription	Osteobl	bone
18	chr9:136783400-136789800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:136783400-136797200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:136783800-136789800	Weak transcription	Liver	Liver
21	chr9:136783800-136791200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:136783800-136801000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:136783800-136802200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:136784000-136793000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr9:136784000-136819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:136784400-136793000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:136784800-136792200	Weak transcription	Stomach Mucosa	stomach
28	chr9:136784800-136799600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:136785200-136793400	Strong transcription	Fetal Intestine Small	intestine
30	chr9:136785200-136793400	Weak transcription	NH-A	brain
31	chr9:136785200-136796800	Weak transcription	HSMM	muscle
32	chr9:136785200-136797000	Weak transcription	Right Atrium	heart
33	chr9:136785200-136799600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:136785400-136791400	Weak transcription	Fetal Brain Female	brain
35	chr9:136785400-136796600	Weak transcription	Fetal Lung	lung
36	chr9:136785400-136797200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr9:136785400-136797200	Weak transcription	Adipose Nuclei	Adipose
38	chr9:136785600-136790600	Weak transcription	Placenta	Placenta
39	chr9:136785600-136792800	Weak transcription	Spleen	Spleen
40	chr9:136785600-136793000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr9:136785600-136793000	Weak transcription	NHLF	lung
42	chr9:136785600-136796200	Weak transcription	Lung	lung
43	chr9:136785800-136791000	Weak transcription	Fetal Brain Male	brain
44	chr9:136785800-136791400	Weak transcription	Fetal Muscle Leg	muscle
45	chr9:136785800-136796200	Weak transcription	Right Ventricle	heart
46	chr9:136785800-136796400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:136786000-136792600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:136786400-136792200	Weak transcription	Brain Germinal Matrix	brain
49	chr9:136786400-136792600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:136786400-136796200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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