Variant report

Variant	rs2230863
Chromosome Location	chr6:56483852-56483853
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56478547..56480887-chr6:56480969..56483923,2	K562	blood:
2	chr6:56478547..56480777-chr6:56480969..56485737,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1024196	0.85[CHD][hapmap];1.00[MEX][hapmap]
rs10484859	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11968575	0.85[CHD][hapmap]
rs11970648	0.85[CHD][hapmap]
rs16888045	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16888053	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16888061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16888068	1.00[MEX][hapmap]
rs16888070	0.89[ASN][1000 genomes]
rs16888171	0.85[CHD][hapmap]
rs2207678	0.89[ASN][1000 genomes]
rs41271876	0.89[ASN][1000 genomes]
rs41271878	0.89[ASN][1000 genomes]
rs45553042	0.89[ASN][1000 genomes]
rs45564536	1.00[ASN][1000 genomes]
rs57350484	0.89[ASN][1000 genomes]
rs6459165	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6941626	0.89[ASN][1000 genomes]
rs7749100	0.85[CHD][hapmap]
rs7759479	1.00[MEX][hapmap]
rs7760099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7769543	1.00[AMR][1000 genomes]
rs7775134	0.85[CHD][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:56417000-56516400	Weak transcription	Pancreas	Pancrea
3	chr6:56432800-56513600	Weak transcription	Small Intestine	intestine
4	chr6:56441000-56524800	Weak transcription	Colonic Mucosa	Colon
5	chr6:56451800-56514200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:56452200-56514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:56452800-56489400	Strong transcription	Liver	Liver
8	chr6:56453000-56492000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:56453000-56502200	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr6:56453000-56506800	Strong transcription	HSMM	muscle
11	chr6:56455400-56486200	Strong transcription	HSMMtube	muscle
12	chr6:56457200-56501200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:56458800-56488200	Weak transcription	HepG2	liver
14	chr6:56459000-56496200	Weak transcription	Fetal Kidney	kidney
15	chr6:56459000-56502400	Strong transcription	Osteobl	bone
16	chr6:56459000-56521000	Weak transcription	Spleen	Spleen
17	chr6:56460600-56496000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:56460600-56513600	Weak transcription	Stomach Mucosa	stomach
19	chr6:56460800-56489000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:56470600-56502200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:56470800-56502600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:56474000-56484400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:56474200-56485200	Weak transcription	Placenta	Placenta
24	chr6:56474200-56501200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:56474400-56484600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:56474600-56484800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:56476600-56485400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:56477800-56486000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:56478000-56487000	Strong transcription	NH-A	brain
30	chr6:56478000-56502600	Strong transcription	NHDF-Ad	bronchial
31	chr6:56478200-56485400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:56478200-56486600	Strong transcription	Fetal Intestine Large	intestine
33	chr6:56478200-56489400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:56478200-56501600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:56478400-56485800	Strong transcription	NHLF	lung
36	chr6:56478400-56486200	Strong transcription	GM12878-XiMat	blood
37	chr6:56478400-56486200	Strong transcription	HUVEC	blood vessel
38	chr6:56478400-56514600	Weak transcription	Lung	lung
39	chr6:56478600-56501800	Strong transcription	Adipose Nuclei	Adipose
40	chr6:56478800-56485200	Weak transcription	Fetal Heart	heart
41	chr6:56478800-56485400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:56478800-56486200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:56479000-56486000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:56479000-56486800	Strong transcription	Fetal Lung	lung
45	chr6:56479200-56485600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:56479400-56486200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:56479400-56502600	Strong transcription	HMEC	breast
48	chr6:56479600-56495200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:56479800-56497400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:56480000-56484400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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