Variant report

Variant	rs11630689
Chromosome Location	chr15:77520094-77520095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77519693..77521904-chr15:77543301..77545622,2	K562	blood:

Variant related genes	Relation type
ENSG00000173517	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11072643	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1125617	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11632941	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11639314	0.90[ASN][1000 genomes]
rs11853287	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11853460	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11854193	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11857294	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11858641	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12443386	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12900433	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12901297	0.83[AMR][1000 genomes]
rs12904088	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12907847	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12908262	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12909924	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12913233	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12914128	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12916731	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1446312	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1823100	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1867779	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2175941	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28584877	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3743478	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3743479	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4243045	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4414462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886511	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886849	0.80[AMR][1000 genomes]
rs4886850	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886856	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62008452	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6495237	0.82[ASN][1000 genomes]
rs7163503	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7177533	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8026500	0.81[AMR][1000 genomes]
rs8028571	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8037426	0.82[ASN][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	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
4	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv1832234	chr15:77451350-77694607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1041064	chr15:77497903-77631698	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1051744	chr15:77511489-77679160	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77473600-77527800	Weak transcription	Placenta	Placenta
2	chr15:77480400-77528000	Weak transcription	Fetal Stomach	stomach
3	chr15:77482200-77528000	Weak transcription	Spleen	Spleen
4	chr15:77492200-77527400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:77492200-77527800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:77492200-77527800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:77492200-77528200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:77492400-77544000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:77501000-77523000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:77501000-77527400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:77502200-77524800	Weak transcription	Osteobl	bone
12	chr15:77505800-77559400	Weak transcription	Psoas Muscle	Psoas
13	chr15:77507600-77528200	Weak transcription	Left Ventricle	heart
14	chr15:77508000-77543400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:77509800-77528000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:77511200-77541800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:77516400-77527200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:77516800-77528200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:77517000-77527200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:77517200-77528000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:77517200-77531600	Weak transcription	NHDF-Ad	bronchial
22	chr15:77517400-77520800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:77517400-77528000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:77517400-77528000	Weak transcription	Aorta	Aorta
25	chr15:77517400-77559000	Weak transcription	Ovary	ovary
26	chr15:77517600-77521200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:77517600-77522000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:77517600-77527800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:77517600-77527800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:77517600-77528000	Weak transcription	Adipose Nuclei	Adipose
31	chr15:77517600-77528200	Weak transcription	HSMMtube	muscle
32	chr15:77517600-77528600	Weak transcription	Primary B cells from cord blood	blood
33	chr15:77517600-77543200	Weak transcription	HSMM	muscle
34	chr15:77517600-77545800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr15:77517800-77527600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:77517800-77527800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:77517800-77527800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:77517800-77528000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr15:77517800-77535400	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:77517800-77544200	Weak transcription	NHLF	lung
41	chr15:77518000-77528000	Weak transcription	Dnd41	blood
42	chr15:77518200-77520600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:77518400-77520200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:77518800-77520200	Enhancers	Fetal Intestine Large	intestine
45	chr15:77518800-77520200	Enhancers	Small Intestine	intestine
46	chr15:77518800-77520400	Enhancers	Fetal Intestine Small	intestine
47	chr15:77518800-77528200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr15:77519200-77520800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr15:77519200-77527800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:77519200-77528200	Weak transcription	Primary T cells from cord blood	blood

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