Variant report

Variant	rs1863995
Chromosome Location	chr6:13457617-13457618
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	chr6:13450822..13452338-chr6:13457314..13458935,2	K562	blood:
2	chr6:13453145..13455587-chr6:13457422..13460283,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2560757	0.97[EUR][1000 genomes]
rs2560759	0.98[EUR][1000 genomes]
rs2560761	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2841564	0.97[EUR][1000 genomes]
rs2841565	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385775	0.99[ASN][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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13438600-13462200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:13445200-13457800	Enhancers	Right Atrium	heart
3	chr6:13445600-13461800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:13448200-13458200	Enhancers	Colon Smooth Muscle	Colon
5	chr6:13449000-13461800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:13451800-13458600	Weak transcription	HepG2	liver
7	chr6:13452000-13462000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:13452200-13483400	Weak transcription	Gastric	stomach
9	chr6:13452400-13460800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:13453400-13461800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:13453800-13458800	Enhancers	Left Ventricle	heart
12	chr6:13453800-13459000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:13453800-13459200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:13454000-13457800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:13454000-13457800	Enhancers	Fetal Thymus	thymus
16	chr6:13454000-13458200	Enhancers	Primary B cells from peripheral blood	blood
17	chr6:13454000-13458200	Enhancers	Adipose Nuclei	Adipose
18	chr6:13454000-13458200	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:13454000-13459400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:13454200-13458400	Enhancers	Right Ventricle	heart
21	chr6:13454400-13461800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:13454400-13485000	Weak transcription	Colonic Mucosa	Colon
23	chr6:13455200-13457800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:13455200-13457800	Weak transcription	Fetal Lung	lung
25	chr6:13455200-13458800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:13455200-13462600	Weak transcription	Stomach Mucosa	stomach
27	chr6:13455200-13466600	Weak transcription	Pancreas	Pancrea
28	chr6:13455200-13484400	Weak transcription	Small Intestine	intestine
29	chr6:13455200-13484600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:13455400-13458200	Enhancers	Brain Hippocampus Middle	brain
31	chr6:13455400-13462000	Weak transcription	Esophagus	oesophagus
32	chr6:13455400-13462600	Weak transcription	HSMM	muscle
33	chr6:13455400-13463200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:13455400-13481000	Weak transcription	HUVEC	blood vessel
35	chr6:13455600-13459000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr6:13455600-13462000	Weak transcription	NHDF-Ad	bronchial
37	chr6:13455800-13457800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr6:13455800-13461200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:13455800-13462000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:13456000-13459400	Enhancers	GM12878-XiMat	blood
41	chr6:13456200-13457800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:13456200-13457800	Weak transcription	Fetal Brain Male	brain
43	chr6:13456200-13461400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:13456200-13461400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:13456200-13461400	Weak transcription	Aorta	Aorta
46	chr6:13456200-13461400	Weak transcription	Lung	lung
47	chr6:13456200-13461600	Weak transcription	Primary T cells from cord blood	blood
48	chr6:13456200-13462000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:13456200-13462000	Weak transcription	Dnd41	blood
50	chr6:13456200-13463000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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