Variant report

Variant	rs4647587
Chromosome Location	chr11:65111975-65111976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65109918..65112567-chr11:65337864..65339971,2	K562	blood:
2	chr11:65110991..65113816-chr11:65120865..65125095,4	MCF-7	breast:
3	chr11:65101009..65102671-chr11:65109957..65112213,2	K562	blood:
4	chr11:65106966..65110029-chr11:65111049..65114233,4	K562	blood:

Variant related genes	Relation type
ENSG00000176973	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000173465	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17145218	0.83[EUR][1000 genomes]
rs2269224	1.00[ASN][1000 genomes]
rs2307266	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4149830	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4647575	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4647576	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647577	0.97[EUR][1000 genomes]
rs4647599	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57994718	0.81[EUR][1000 genomes]
rs60763559	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60933608	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61732319	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61736579	1.00[ASN][1000 genomes]
rs7127811	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73482271	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947014	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950149	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4647587	TSGA10IP	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65103200-65112000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:65103200-65112800	Weak transcription	Stomach Mucosa	stomach
3	chr11:65103200-65121200	Strong transcription	Fetal Intestine Small	intestine
4	chr11:65103400-65119600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:65103400-65120800	Strong transcription	Fetal Muscle Leg	muscle
6	chr11:65103400-65121200	Strong transcription	Fetal Stomach	stomach
7	chr11:65103600-65120200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:65103600-65120200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr11:65103800-65117400	Strong transcription	Fetal Thymus	thymus
10	chr11:65104400-65121400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:65105000-65114600	Strong transcription	GM12878-XiMat	blood
12	chr11:65105000-65119200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:65105000-65121000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:65105400-65120200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:65105600-65120000	Strong transcription	Primary B cells from cord blood	blood
16	chr11:65105600-65120400	Strong transcription	Primary T cells from cord blood	blood
17	chr11:65105600-65120400	Strong transcription	Fetal Lung	lung
18	chr11:65105600-65120600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:65105600-65120600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:65105600-65120800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:65105600-65121000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr11:65105600-65121000	Strong transcription	Osteobl	bone
23	chr11:65105600-65121200	Strong transcription	Fetal Intestine Large	intestine
24	chr11:65105600-65121400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:65105800-65120400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:65105800-65120400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:65105800-65120400	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr11:65105800-65120400	Strong transcription	Liver	Liver
29	chr11:65105800-65120400	Strong transcription	Fetal Brain Female	brain
30	chr11:65105800-65120400	Strong transcription	Hela-S3	cervix
31	chr11:65105800-65121000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:65105800-65121000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:65105800-65121200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:65106000-65118000	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr11:65106000-65120200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:65106000-65120400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:65106000-65120400	Strong transcription	Spleen	Spleen
38	chr11:65106000-65121000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:65106000-65121000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:65106200-65120200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:65106200-65120400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:65106200-65120400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:65106200-65121000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:65106400-65116200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:65106400-65119200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:65106400-65120000	Strong transcription	Colonic Mucosa	Colon
47	chr11:65106400-65120400	Strong transcription	Dnd41	blood
48	chr11:65106400-65120800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:65106600-65118800	Strong transcription	Thymus	Thymus
50	chr11:65106600-65120000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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