Variant report

Variant	rs59030985
Chromosome Location	chr2:37895420-37895421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs60259299	1.00[AMR][1000 genomes]
rs72881330	1.00[AMR][1000 genomes]
rs72883908	1.00[AMR][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	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv535647	chr2:37874563-38014428	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv998567	chr2:37886244-37910627	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
2	chr2:37875800-37896400	Weak transcription	Fetal Intestine Small	intestine
3	chr2:37880400-37897000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:37882600-37896600	Weak transcription	Fetal Lung	lung
5	chr2:37882800-37896200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:37882800-37896400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:37883400-37896400	Weak transcription	Colonic Mucosa	Colon
8	chr2:37885000-37895600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:37885000-37895800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:37886000-37897400	Weak transcription	Placenta	Placenta
11	chr2:37886000-37897600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:37887200-37896400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:37887400-37897200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:37887600-37895600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:37887600-37895600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:37887600-37897400	Weak transcription	Pancreas	Pancrea
17	chr2:37888400-37895600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:37888400-37896800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:37888600-37895800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:37888600-37895800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:37889400-37895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:37890000-37895800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:37891000-37897400	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:37891400-37895800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:37891400-37895800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:37891400-37897800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:37891800-37897600	Transcr. at gene 5' and 3'	HSMM	muscle
28	chr2:37891800-37897800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
29	chr2:37891800-37898600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
30	chr2:37892000-37895600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:37892000-37896600	Weak transcription	Liver	Liver
32	chr2:37892200-37895600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:37892400-37896000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
34	chr2:37892800-37895600	Weak transcription	Fetal Kidney	kidney
35	chr2:37892800-37895800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:37892800-37896000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
37	chr2:37892800-37896800	Enhancers	Fetal Thymus	thymus
38	chr2:37892800-37898000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:37893000-37895600	Weak transcription	Esophagus	oesophagus
40	chr2:37893000-37895800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:37893000-37896600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:37893000-37897800	Transcr. at gene 5' and 3'	Osteobl	bone
43	chr2:37893200-37895600	Weak transcription	Primary T cells from cord blood	blood
44	chr2:37893400-37898000	Weak transcription	Spleen	Spleen
45	chr2:37893600-37895600	Weak transcription	Adipose Nuclei	Adipose
46	chr2:37893600-37896800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:37893800-37895600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:37893800-37895800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
49	chr2:37894000-37895800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:37894000-37897800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung

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