Variant report

Variant	rs10993836
Chromosome Location	chr9:136738911-136738912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136737233..136739382-chr9:136837639..136839568,3	MCF-7	breast:
2	chr9:136623857..136625916-chr9:136737465..136739989,2	MCF-7	breast:
3	chr9:136695295..136698632-chr9:136737582..136741114,3	MCF-7	breast:
4	chr9:136737444..136739076-chr9:136824298..136826318,2	MCF-7	breast:
5	chr9:136737561..136740251-chr9:136741491..136743722,2	K562	blood:
6	chr9:136738296..136739954-chr9:137266161..137269160,2	MCF-7	breast:
7	chr9:136738620..136740987-chr9:136829938..136833023,3	MCF-7	breast:
8	chr9:136682372..136685091-chr9:136736448..136738979,2	MCF-7	breast:
9	chr2:238395363..238396972-chr9:136738845..136741262,2	MCF-7	breast:
10	chr9:136737226..136739729-chr9:136793825..136795449,2	MCF-7	breast:
11	chr9:136644385..136647944-chr9:136738272..136741517,4	MCF-7	breast:
12	chr9:136733619..136743972-chr9:136852076..136861381,50	MCF-7	breast:
13	chr17:57919485..57922365-chr9:136736871..136739755,2	MCF-7	breast:
14	chr9:136732119..136736339-chr9:136737588..136739921,3	K562	blood:
15	chr9:136674892..136676991-chr9:136737991..136740534,2	MCF-7	breast:
16	chr9:136699416..136701767-chr9:136738556..136740332,2	MCF-7	breast:
17	chr9:136737105..136739674-chr9:136778546..136781444,2	MCF-7	breast:
18	chr9:136737938..136739664-chr9:136994862..136997731,2	MCF-7	breast:
19	chr9:136698753..136701712-chr9:136736999..136741089,4	MCF-7	breast:
20	chr9:136738427..136740068-chr9:136827003..136828937,2	MCF-7	breast:
21	chr9:136736947..136741233-chr9:136835339..136839101,5	MCF-7	breast:
22	chr9:136738035..136740400-chr9:136850110..136852807,2	MCF-7	breast:
23	chr9:136737400..136743457-chr9:136819359..136829756,12	MCF-7	breast:
24	chr9:136736139..136748779-chr9:136853521..136861128,82	MCF-7	breast:
25	chr9:136655680..136661750-chr9:136735179..136740692,8	MCF-7	breast:
26	chr9:136737420..136739354-chr9:136812499..136814864,2	MCF-7	breast:
27	chr9:136649018..136654096-chr9:136736895..136740406,5	MCF-7	breast:
28	chr9:136701985..136719064-chr9:136732605..136742545,35	MCF-7	breast:
29	chr9:136738615..136741064-chr9:136782245..136785156,2	MCF-7	breast:
30	chr9:136723768..136727391-chr9:136738428..136742111,4	MCF-7	breast:
31	chr9:136738092..136740992-chr9:136890169..136892007,2	MCF-7	breast:
32	chr9:136727983..136729228-chr9:136738456..136739459,6	MCF-7	breast:
33	chr9:136720764..136723622-chr9:136736992..136740613,4	MCF-7	breast:
34	chr9:136737182..136738921-chr9:136761146..136762835,2	MCF-7	breast:
35	chr9:136737751..136739458-chr9:136770679..136772201,2	MCF-7	breast:
36	chr9:136736821..136740635-chr9:136999583..137001478,3	MCF-7	breast:
37	chr9:136679100..136681624-chr9:136737494..136739872,2	MCF-7	breast:
38	chr9:136703509..136705855-chr9:136737754..136741325,4	MCF-7	breast:
39	chr9:136737792..136741016-chr9:136774631..136778412,3	MCF-7	breast:
40	chr9:136658148..136661518-chr9:136735926..136740986,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273249	Chromatin interaction
ENSG00000235106	Chromatin interaction
ENSG00000160293	Chromatin interaction
ENSG00000115648	Chromatin interaction
ENSG00000196363	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10114138	0.88[EUR][1000 genomes]
rs10114514	0.85[EUR][1000 genomes]
rs10217798	0.85[EUR][1000 genomes]
rs10821527	0.81[CEU][hapmap]
rs10821530	0.87[EUR][1000 genomes]
rs10993826	0.87[CEU][hapmap]
rs10993839	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12001180	0.81[CEU][hapmap]
rs12001216	0.83[CEU][hapmap]
rs12376343	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12377799	0.82[AMR][1000 genomes]
rs2073830	0.81[CEU][hapmap]
rs2073929	0.87[CEU][hapmap]
rs2486351	0.81[CEU][hapmap]
rs2510238	1.00[JPT][hapmap]
rs2510254	0.81[CEU][hapmap]
rs3780737	0.87[CEU][hapmap]
rs3780739	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819500	0.87[CEU][hapmap]
rs3819502	0.87[CEU][hapmap]
rs7022082	0.88[EUR][1000 genomes]
rs7025684	0.88[EUR][1000 genomes]
rs7025729	0.88[EUR][1000 genomes]
rs7025939	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7026235	0.85[EUR][1000 genomes]
rs7034805	0.88[EUR][1000 genomes]
rs7038256	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7046381	0.88[EUR][1000 genomes]
rs7852459	0.87[CEU][hapmap]
rs7853626	0.87[CEU][hapmap]
rs7869522	0.82[CEU][hapmap]
rs9657701	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136727800-136739000	Weak transcription	NHLF	lung
2	chr9:136729600-136780000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:136729800-136762600	Weak transcription	Right Ventricle	heart
4	chr9:136730000-136739200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:136731800-136739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:136735600-136739400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:136735600-136740600	Weak transcription	Brain Germinal Matrix	brain
8	chr9:136735600-136744200	Weak transcription	Fetal Brain Male	brain
9	chr9:136735600-136747400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:136735800-136739800	Weak transcription	Liver	Liver
11	chr9:136735800-136741400	Weak transcription	Gastric	stomach
12	chr9:136735800-136742400	Weak transcription	GM12878-XiMat	blood
13	chr9:136736000-136739200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:136736000-136760000	Weak transcription	Primary B cells from cord blood	blood
15	chr9:136736400-136745200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr9:136736600-136739200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:136736800-136756200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:136737000-136743000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:136737200-136742800	Enhancers	Fetal Muscle Leg	muscle
20	chr9:136737200-136749000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr9:136737600-136740600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr9:136737800-136739200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:136737800-136739400	Weak transcription	Pancreas	Pancrea
24	chr9:136737800-136740200	Enhancers	Lung	lung
25	chr9:136737800-136740400	Enhancers	Spleen	Spleen
26	chr9:136738000-136740800	Enhancers	Placenta	Placenta
27	chr9:136738200-136739000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:136738200-136740400	Flanking Active TSS	NHEK	skin
29	chr9:136738200-136740600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:136738200-136743000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:136738400-136739000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr9:136738400-136739000	Enhancers	Adipose Nuclei	Adipose
33	chr9:136738400-136739000	Enhancers	Brain Angular Gyrus	brain
34	chr9:136738400-136739000	Enhancers	HepG2	liver
35	chr9:136738400-136739200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:136738400-136739200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:136738400-136739200	Enhancers	Brain Cingulate Gyrus	brain
38	chr9:136738400-136739400	Enhancers	Brain Hippocampus Middle	brain
39	chr9:136738400-136739400	Enhancers	Fetal Lung	lung
40	chr9:136738400-136739800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr9:136738400-136739800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:136738400-136739800	Enhancers	Fetal Thymus	thymus
43	chr9:136738400-136740000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:136738400-136740000	Flanking Active TSS	HSMM	muscle
45	chr9:136738400-136740000	Enhancers	Osteobl	bone
46	chr9:136738400-136740200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:136738400-136740200	Flanking Active TSS	Hela-S3	cervix
48	chr9:136738400-136740600	Enhancers	Fetal Intestine Large	intestine
49	chr9:136738400-136740600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr9:136738400-136741000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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