Variant report

Variant	rs61216931
Chromosome Location	chr3:135727096-135727097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1403765	1.00[AFR][1000 genomes]
rs16843517	1.00[AFR][1000 genomes]
rs16843565	1.00[AFR][1000 genomes]
rs16843571	1.00[AFR][1000 genomes]
rs16843601	1.00[AFR][1000 genomes]
rs16843602	1.00[AFR][1000 genomes]
rs16843656	1.00[AFR][1000 genomes]
rs56848754	0.91[AFR][1000 genomes]
rs57507646	1.00[AFR][1000 genomes]
rs57524286	1.00[AFR][1000 genomes]
rs57539640	1.00[AFR][1000 genomes]
rs57578189	1.00[AFR][1000 genomes]
rs57681844	1.00[AFR][1000 genomes]
rs58136416	0.83[AFR][1000 genomes]
rs58362057	1.00[AFR][1000 genomes]
rs58619345	1.00[AFR][1000 genomes]
rs59899876	1.00[AFR][1000 genomes]
rs59985031	1.00[AFR][1000 genomes]
rs72977692	0.81[AFR][1000 genomes]
rs72977699	0.81[AFR][1000 genomes]
rs72977700	0.81[AFR][1000 genomes]
rs72979626	0.91[AFR][1000 genomes]
rs72979633	0.91[AFR][1000 genomes]
rs72979636	0.91[AFR][1000 genomes]
rs72979647	1.00[AFR][1000 genomes]
rs72979686	1.00[AFR][1000 genomes]
rs72979693	1.00[AFR][1000 genomes]
rs72979696	1.00[AFR][1000 genomes]
rs72979701	1.00[AFR][1000 genomes]
rs72981430	0.83[AFR][1000 genomes]
rs72981436	1.00[AFR][1000 genomes]
rs72981447	1.00[AFR][1000 genomes]
rs72981448	1.00[AFR][1000 genomes]
rs72981456	1.00[AFR][1000 genomes]
rs72981499	1.00[AFR][1000 genomes]
rs72983435	1.00[AFR][1000 genomes]
rs72983458	1.00[AFR][1000 genomes]
rs72983467	0.83[AFR][1000 genomes]
rs72983501	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv829732	chr3:135561706-135756840	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135707000-135736400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr3:135707000-135741600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:135708200-135730200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:135710000-135727200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:135710000-135737600	Weak transcription	Left Ventricle	heart
6	chr3:135710800-135727600	Weak transcription	Aorta	Aorta
7	chr3:135711600-135727800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:135711600-135731000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:135711800-135727400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:135711800-135730400	Weak transcription	HSMM	muscle
11	chr3:135711800-135730400	Weak transcription	Osteobl	bone
12	chr3:135711800-135737600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:135714000-135729200	Weak transcription	NH-A	brain
14	chr3:135714000-135735600	Weak transcription	Fetal Heart	heart
15	chr3:135714200-135737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:135714800-135737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:135715600-135732200	Weak transcription	Fetal Lung	lung
18	chr3:135715600-135737000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:135715600-135737600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:135716200-135736400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:135717000-135730400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:135717200-135727600	Weak transcription	Fetal Stomach	stomach
23	chr3:135717200-135737600	Weak transcription	NHEK	skin
24	chr3:135717200-135747000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:135717400-135735200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:135717800-135737400	Weak transcription	HSMMtube	muscle
27	chr3:135718000-135727200	Weak transcription	Psoas Muscle	Psoas
28	chr3:135718000-135753000	Weak transcription	Fetal Kidney	kidney
29	chr3:135718200-135736600	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:135718400-135737200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:135718800-135737600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:135719000-135730400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:135719000-135735600	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:135719000-135741600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:135719200-135746200	Weak transcription	Fetal Intestine Large	intestine
36	chr3:135721000-135727600	Weak transcription	Ovary	ovary
37	chr3:135721800-135763600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr3:135722800-135727200	Weak transcription	NHDF-Ad	bronchial
39	chr3:135725400-135727800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr3:135725800-135727800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:135726000-135727400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:135726000-135727400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:135726000-135728000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:135726200-135727800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:135726200-135727800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:135726200-135727800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr3:135726200-135727800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:135726200-135737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:135726200-135737800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:135726200-135748000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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