Variant report

Variant	rs6730587
Chromosome Location	chr2:96050066-96050067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96049823..96052609-chr2:96068463..96070027,2	K562	blood:
2	chr2:96049792..96051426-chr2:96053262..96055511,2	K562	blood:

Variant related genes	Relation type
ENSG00000115042	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10490743	1.00[CHB][hapmap]
rs1862898	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72946017	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72946023	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72946026	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72948008	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv961829	chr2:96043414-96069177	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96030400-96054600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:96036600-96054800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:96040600-96050400	Weak transcription	Gastric	stomach
4	chr2:96041000-96054800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:96041400-96054600	Weak transcription	NHDF-Ad	bronchial
6	chr2:96043400-96054800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:96043600-96050600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:96045600-96054800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:96045800-96050200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:96046600-96050400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:96047200-96054600	Weak transcription	Brain Anterior Caudate	brain
12	chr2:96047400-96050200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:96048200-96050800	Weak transcription	Right Ventricle	heart
14	chr2:96048600-96051000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:96048600-96054800	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:96049000-96050200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:96049400-96051200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:96049400-96051400	Enhancers	Fetal Intestine Large	intestine
19	chr2:96049400-96052000	Enhancers	Placenta	Placenta
20	chr2:96049400-96052200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr2:96049400-96052400	Enhancers	Liver	Liver
22	chr2:96049400-96052400	Enhancers	Fetal Intestine Small	intestine
23	chr2:96049400-96052400	Enhancers	Fetal Muscle Leg	muscle
24	chr2:96049400-96052800	Enhancers	Ovary	ovary
25	chr2:96049600-96050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:96049600-96050600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:96049600-96051000	Enhancers	Stomach Mucosa	stomach
28	chr2:96049600-96051200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:96049600-96051800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr2:96049600-96052400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:96049800-96050200	Weak transcription	Esophagus	oesophagus
32	chr2:96049800-96050200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:96049800-96050400	Enhancers	Fetal Lung	lung
34	chr2:96049800-96050600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:96049800-96050800	Enhancers	HSMM	muscle
36	chr2:96049800-96051200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:96049800-96051400	Bivalent Enhancer	Fetal Stomach	stomach
38	chr2:96049800-96052000	Enhancers	Duodenum Mucosa	Duodenum
39	chr2:96050000-96050600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr2:96050000-96051000	Enhancers	Adipose Nuclei	Adipose
41	chr2:96050000-96051000	Flanking Active TSS	HepG2	liver
42	chr2:96050000-96051600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr2:96050000-96051600	Enhancers	HSMMtube	muscle
44	chr2:96050000-96052200	Enhancers	Spleen	Spleen

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