Variant report

Variant	rs59448131
Chromosome Location	chr2:37881068-37881069
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37879997..37882658-chr2:37898189..37900305,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163171	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11883935	0.96[AFR][1000 genomes]
rs11883996	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11889746	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2231497	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2231498	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57508273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58092773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59815294	1.00[EUR][1000 genomes]
rs60947839	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61213191	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6755117	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6755123	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72879488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72879489	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72879490	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72879498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72879499	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72880603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72881303	1.00[EUR][1000 genomes]
rs72881306	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72881313	1.00[EUR][1000 genomes]
rs72881314	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72881315	0.93[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:121 , 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	chr2:37872200-37881800	Weak transcription	Fetal Kidney	kidney
4	chr2:37873000-37881400	Enhancers	Right Atrium	heart
5	chr2:37873800-37889000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:37874200-37881600	Genic enhancers	NHLF	lung
7	chr2:37874400-37881600	Enhancers	Psoas Muscle	Psoas
8	chr2:37874400-37883200	Enhancers	Adipose Nuclei	Adipose
9	chr2:37874600-37884000	Enhancers	Fetal Muscle Leg	muscle
10	chr2:37874600-37893000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:37874800-37882000	Enhancers	Left Ventricle	heart
12	chr2:37875200-37881800	Enhancers	Spleen	Spleen
13	chr2:37875200-37882200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:37875400-37881200	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:37875400-37883400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:37875600-37881200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:37875800-37881600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:37875800-37882000	Enhancers	Right Ventricle	heart
19	chr2:37875800-37883800	Genic enhancers	NHDF-Ad	bronchial
20	chr2:37875800-37884400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:37875800-37891800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:37875800-37893600	Weak transcription	Fetal Intestine Large	intestine
23	chr2:37875800-37896400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:37876000-37881200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:37876000-37882800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:37876200-37881200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:37876200-37881400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:37876200-37882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:37876200-37884400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:37877200-37882600	Enhancers	Colon Smooth Muscle	Colon
31	chr2:37877400-37883200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:37878000-37881800	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr2:37878000-37886200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:37878400-37882000	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:37878400-37882000	Enhancers	Placenta	Placenta
36	chr2:37878400-37894000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:37878600-37881200	Enhancers	HUVEC	blood vessel
38	chr2:37878600-37881400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:37878600-37881800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:37878600-37882800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:37878600-37882800	Enhancers	Fetal Thymus	thymus
42	chr2:37878800-37881600	Enhancers	Fetal Heart	heart
43	chr2:37878800-37881800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:37878800-37886400	Weak transcription	Liver	Liver
45	chr2:37879200-37883800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:37879400-37881400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:37879400-37881400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:37879400-37881400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr2:37879400-37881600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr2:37879400-37881800	Enhancers	HUES48 Cell Line	embryonic stem cell

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