Variant report

Variant	rs60031390
Chromosome Location	chr2:39306061-39306062
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	chr2:39297576..39299588-chr2:39304376..39306926,2	K562	blood:
2	chr2:39298169..39301040-chr2:39304829..39306843,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10184046	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10189440	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10207187	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13387231	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13425165	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13432395	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56269328	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6544200	0.81[AFR][1000 genomes]
rs6734212	0.84[AFR][1000 genomes]
rs7564481	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7571608	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7571719	0.81[AFR][1000 genomes]
rs7574214	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7589303	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv1008198	chr2:39271472-39364035	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39213800-39308000	Weak transcription	Pancreas	Pancrea
2	chr2:39235400-39312000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:39235600-39327800	Weak transcription	Esophagus	oesophagus
4	chr2:39250200-39313600	Weak transcription	Brain Angular Gyrus	brain
5	chr2:39251600-39327200	Weak transcription	HUVEC	blood vessel
6	chr2:39258400-39322400	Weak transcription	Thymus	Thymus
7	chr2:39261000-39309800	Weak transcription	Spleen	Spleen
8	chr2:39261000-39318800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:39261000-39327800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:39271400-39320400	Weak transcription	Right Ventricle	heart
11	chr2:39272800-39310200	Weak transcription	Fetal Heart	heart
12	chr2:39278200-39314800	Weak transcription	Left Ventricle	heart
13	chr2:39280800-39334200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:39282600-39327400	Weak transcription	Hela-S3	cervix
15	chr2:39293400-39314800	Weak transcription	Psoas Muscle	Psoas
16	chr2:39293600-39310200	Weak transcription	Fetal Lung	lung
17	chr2:39293600-39322000	Weak transcription	NHDF-Ad	bronchial
18	chr2:39293800-39310200	Weak transcription	Primary T cells from cord blood	blood
19	chr2:39293800-39339400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:39294000-39307000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:39294000-39312000	Weak transcription	K562	blood
22	chr2:39294000-39345200	Weak transcription	Fetal Kidney	kidney
23	chr2:39294200-39322000	Weak transcription	Dnd41	blood
24	chr2:39294400-39308200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:39294400-39322000	Weak transcription	HSMM	muscle
26	chr2:39294600-39307000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:39294600-39310400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:39294600-39313200	Weak transcription	Fetal Intestine Large	intestine
29	chr2:39294600-39320600	Weak transcription	Primary B cells from cord blood	blood
30	chr2:39294600-39320800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:39294600-39339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:39294800-39307400	Weak transcription	Fetal Thymus	thymus
33	chr2:39294800-39320400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:39294800-39322000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:39295000-39310000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:39296200-39309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:39296200-39316800	Weak transcription	HepG2	liver
38	chr2:39296400-39307000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:39296400-39309600	Weak transcription	Ovary	ovary
40	chr2:39296400-39320600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:39296400-39322600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:39296400-39339400	Weak transcription	Aorta	Aorta
43	chr2:39296600-39322200	Weak transcription	NHEK	skin
44	chr2:39296800-39307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:39297200-39320600	Weak transcription	Adipose Nuclei	Adipose
46	chr2:39297200-39322000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:39297400-39324600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:39298000-39315600	Weak transcription	GM12878-XiMat	blood
49	chr2:39299000-39310200	Weak transcription	Right Atrium	heart
50	chr2:39299600-39307000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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