Variant report

Variant	rs2510254
Chromosome Location	chr9:136718696-136718697
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136716723..136719526-chr9:136720633..136722987,2	MCF-7	breast:
2	chr9:136715220..136720251-chr9:136855019..136859109,6	MCF-7	breast:
3	chr9:136697949..136700533-chr9:136718223..136719724,2	MCF-7	breast:
4	chr9:136701985..136719064-chr9:136732605..136742545,35	MCF-7	breast:
5	chr9:136703075..136705060-chr9:136717347..136720251,2	MCF-7	breast:
6	chr9:136712608..136715377-chr9:136715863..136719232,3	K562	blood:
7	chr9:136714635..136716743-chr9:136718392..136719947,2	MCF-7	breast:
8	chr9:136718031..136721993-chr9:136856767..136859513,3	MCF-7	breast:
9	chr9:136711109..136713982-chr9:136718065..136723456,4	MCF-7	breast:
10	chr9:136716201..136719069-chr9:136729479..136731369,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10821526	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10821527	0.88[CEU][hapmap]
rs10993820	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs10993822	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10993823	0.89[CEU][hapmap];0.90[ASN][1000 genomes]
rs10993824	0.90[ASN][1000 genomes]
rs10993826	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10993828	0.90[ASN][1000 genomes]
rs10993829	0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs10993830	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs10993832	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs10993836	0.81[CEU][hapmap]
rs12000549	0.88[ASN][1000 genomes]
rs12005762	0.88[ASN][1000 genomes]
rs12341505	0.98[ASN][1000 genomes]
rs12377799	0.90[ASN][1000 genomes]
rs1557679	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663678	0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs2073830	0.88[CEU][hapmap]
rs2073928	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2073929	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2073930	0.88[ASN][1000 genomes]
rs2156323	0.93[CEU][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs2260095	0.94[CEU][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2261150	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2428123	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428124	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2428126	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428129	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486350	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502765	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436700	1.00[ASN][1000 genomes]
rs35711919	0.90[ASN][1000 genomes]
rs35776936	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780737	0.87[CEU][hapmap]
rs3780741	0.80[CEU][hapmap]
rs3819500	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3819502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3819504	0.90[ASN][1000 genomes]
rs3819505	0.90[ASN][1000 genomes]
rs55646136	0.90[ASN][1000 genomes]
rs55939286	0.84[ASN][1000 genomes]
rs56745684	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56868628	0.98[ASN][1000 genomes]
rs58816065	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67484139	0.90[ASN][1000 genomes]
rs7025939	0.87[CEU][hapmap]
rs7038256	0.87[CEU][hapmap]
rs72762854	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72762864	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs739466	0.94[CEU][hapmap]
rs7853626	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][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	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	nsv428546	chr9:136541745-136720872	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	esv3322551	chr9:136714631-136719129	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	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
10	esv3401000	chr9:136717131-136721429	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136675200-136728400	Weak transcription	Esophagus	oesophagus
2	chr9:136705400-136726800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:136705600-136719200	Weak transcription	Fetal Kidney	kidney
4	chr9:136705800-136721000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:136705800-136724400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:136705800-136726000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:136705800-136729400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:136706000-136726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:136707200-136726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:136708000-136719600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:136708000-136721000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:136708200-136719200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:136709000-136728600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:136710000-136727400	Weak transcription	Brain Substantia Nigra	brain
15	chr9:136710400-136719200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr9:136710600-136720200	Weak transcription	Colonic Mucosa	Colon
17	chr9:136710600-136727200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr9:136710800-136725600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:136710800-136728600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:136711000-136720000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:136711000-136721000	Weak transcription	A549	lung
22	chr9:136711000-136725800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:136711200-136719200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:136711200-136719400	Weak transcription	NHLF	lung
25	chr9:136711200-136720400	Weak transcription	HSMM	muscle
26	chr9:136711200-136720400	Weak transcription	Osteobl	bone
27	chr9:136711400-136720200	Weak transcription	Adipose Nuclei	Adipose
28	chr9:136711400-136720200	Weak transcription	Fetal Lung	lung
29	chr9:136711400-136720400	Weak transcription	HSMMtube	muscle
30	chr9:136711400-136737800	Weak transcription	NH-A	brain
31	chr9:136711600-136727400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:136711800-136719000	Weak transcription	Lung	lung
33	chr9:136712000-136719000	Weak transcription	Liver	Liver
34	chr9:136712000-136720600	Weak transcription	Right Ventricle	heart
35	chr9:136712200-136721400	Strong transcription	Fetal Stomach	stomach
36	chr9:136712400-136718800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:136714400-136719200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:136714600-136720800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:136714600-136721200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:136714600-136722800	Weak transcription	HMEC	breast
41	chr9:136714600-136729400	Weak transcription	NHEK	skin
42	chr9:136715000-136719600	Weak transcription	Fetal Brain Female	brain
43	chr9:136715200-136725600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:136715400-136723000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:136716200-136718800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:136716200-136718800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr9:136716200-136719000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr9:136716600-136722000	Weak transcription	GM12878-XiMat	blood
49	chr9:136716800-136719200	Weak transcription	Pancreas	Pancrea
50	chr9:136717000-136720000	Enhancers	Fetal Brain Male	brain

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