Variant report

Variant	rs10993860
Chromosome Location	chr9:136785666-136785667
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136785194..136788113-chr9:136791531..136793038,2	MCF-7	breast:
2	chr9:136784893..136788377-chr9:136799108..136802562,3	MCF-7	breast:
3	chr9:136781852..136785790-chr9:136856323..136859841,3	MCF-7	breast:
4	chr9:136785433..136787770-chr9:136791377..136793563,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10993854	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428083	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2810503	0.86[EUR][1000 genomes]
rs55671655	0.90[EUR][1000 genomes]
rs55785906	0.90[EUR][1000 genomes]
rs55820454	0.86[EUR][1000 genomes]
rs7040162	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764805	0.90[EUR][1000 genomes]
rs7847503	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv1832030	chr9:136753246-136785840	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1829795	chr9:136753246-136787253	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv466625	chr9:136762800-136787972	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv615740	chr9:136762800-136787972	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	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
12	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

No data

Chromatin state (count:72 , 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	chr9:136777000-136786200	Weak transcription	NHEK	skin
5	chr9:136777600-136786400	Weak transcription	Primary B cells from cord blood	blood
6	chr9:136777800-136796600	Weak transcription	HUVEC	blood vessel
7	chr9:136778000-136785800	Enhancers	Fetal Muscle Leg	muscle
8	chr9:136778000-136791200	Weak transcription	GM12878-XiMat	blood
9	chr9:136778600-136786400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:136780600-136796800	Weak transcription	Ovary	ovary
11	chr9:136781000-136799400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:136781000-136800400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:136781200-136785800	Enhancers	Fetal Brain Male	brain
14	chr9:136781200-136787800	Enhancers	Pancreas	Pancrea
15	chr9:136781200-136798600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:136781200-136802200	Weak transcription	Hela-S3	cervix
17	chr9:136781200-136804600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:136781400-136786200	Enhancers	Fetal Muscle Trunk	muscle
19	chr9:136781400-136789400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:136781800-136797000	Weak transcription	Esophagus	oesophagus
21	chr9:136782000-136793200	Weak transcription	HMEC	breast
22	chr9:136782000-136809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:136782400-136793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr9:136782800-136793800	Weak transcription	Gastric	stomach
25	chr9:136782800-136797200	Weak transcription	Osteobl	bone
26	chr9:136783400-136786000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:136783400-136786600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:136783400-136789800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr9:136783400-136797200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:136783600-136789200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:136783800-136786200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:136783800-136786400	Enhancers	Brain Germinal Matrix	brain
33	chr9:136783800-136786400	Weak transcription	Fetal Intestine Large	intestine
34	chr9:136783800-136787200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:136783800-136789600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:136783800-136789800	Weak transcription	Liver	Liver
37	chr9:136783800-136791200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:136783800-136801000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr9:136783800-136802200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:136784000-136788000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr9:136784000-136793000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:136784000-136819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr9:136784400-136785800	Enhancers	Right Ventricle	heart
44	chr9:136784400-136789600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr9:136784400-136793000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:136784600-136786000	Weak transcription	HepG2	liver
47	chr9:136784800-136785800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
48	chr9:136784800-136787800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:136784800-136792200	Weak transcription	Stomach Mucosa	stomach
50	chr9:136784800-136799600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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