Variant report

Variant	rs72879496
Chromosome Location	chr2:37883974-37883975
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	chr2:37871133..37873297-chr2:37883736..37885444,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60910686	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61231162	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72881310	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:122 , 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	chr2:37872000-37892400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:37873800-37889000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:37874600-37884000	Enhancers	Fetal Muscle Leg	muscle
5	chr2:37874600-37893000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:37875800-37884400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:37875800-37891800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:37875800-37893600	Weak transcription	Fetal Intestine Large	intestine
9	chr2:37875800-37896400	Weak transcription	Fetal Intestine Small	intestine
10	chr2:37876200-37884400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:37878000-37886200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:37878400-37894000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:37878800-37886400	Weak transcription	Liver	Liver
14	chr2:37879600-37888800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:37879600-37893000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:37879600-37893000	Genic enhancers	Osteobl	bone
17	chr2:37879800-37888600	Weak transcription	Fetal Stomach	stomach
18	chr2:37880000-37884200	Genic enhancers	NH-A	brain
19	chr2:37880200-37888400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:37880400-37884800	Weak transcription	Stomach Mucosa	stomach
21	chr2:37880400-37886000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:37880400-37897000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:37880600-37885600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr2:37880800-37885200	Enhancers	Primary B cells from cord blood	blood
25	chr2:37881200-37885000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:37881200-37890800	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:37881400-37884000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:37881400-37884000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:37881400-37885000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:37881400-37885200	Weak transcription	Gastric	stomach
31	chr2:37881400-37887600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:37881600-37885400	Weak transcription	Brain Anterior Caudate	brain
33	chr2:37881800-37884600	Enhancers	Primary T cells fromperipheralblood	blood
34	chr2:37881800-37884800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:37881800-37885000	Genic enhancers	Monocytes-CD14+_RO01746	blood
36	chr2:37881800-37885600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:37881800-37893200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:37881800-37893800	Genic enhancers	Primary monocytes fromperipheralblood	blood
39	chr2:37881800-37894200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:37882000-37884600	Enhancers	Psoas Muscle	Psoas
41	chr2:37882000-37884600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr2:37882000-37886400	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:37882000-37887000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:37882000-37891400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:37882200-37886400	Enhancers	Right Atrium	heart
46	chr2:37882400-37884200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:37882400-37884400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:37882400-37885200	Enhancers	Left Ventricle	heart
49	chr2:37882400-37886000	Enhancers	Placenta	Placenta
50	chr2:37882400-37886200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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