Variant report

Variant	rs195048
Chromosome Location	chr6:119637160-119637161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119635721..119637766-chr6:119644163..119646597,2	K562	blood:
2	chr6:119445963..119447697-chr6:119635647..119638116,2	K562	blood:
3	chr6:119636794..119639649-chr6:119653297..119655994,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12215906	0.87[ASN][1000 genomes]
rs1295391	0.82[AMR][1000 genomes]
rs1295392	0.80[ASN][1000 genomes]
rs1324554	0.83[EUR][1000 genomes]
rs195056	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs195058	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs195090	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195092	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057554	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267673	0.81[EUR][1000 genomes]
rs2267674	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2267675	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2267676	0.81[ASN][1000 genomes]
rs2299878	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2299886	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357164	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3778111	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3819731	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4946406	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6937640	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7755155	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7755572	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9374788	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9489630	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9489638	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs975578	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119617200-119637400	Weak transcription	Aorta	Aorta
2	chr6:119625200-119668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:119627800-119667000	Weak transcription	Gastric	stomach
4	chr6:119630400-119637800	Genic enhancers	HepG2	liver
5	chr6:119631600-119637800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:119632000-119638400	Weak transcription	Fetal Kidney	kidney
7	chr6:119632200-119638400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:119632800-119647200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:119633000-119637400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:119633000-119647200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:119633200-119637400	Enhancers	Primary B cells from cord blood	blood
12	chr6:119633200-119637400	Enhancers	Fetal Thymus	thymus
13	chr6:119633600-119637800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:119633800-119637200	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:119633800-119637400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:119634000-119637400	Enhancers	Fetal Heart	heart
17	chr6:119634000-119637600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:119634200-119647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:119634400-119638400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:119634400-119644000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:119634600-119637200	Enhancers	Duodenum Mucosa	Duodenum
22	chr6:119634600-119644200	Weak transcription	Fetal Intestine Large	intestine
23	chr6:119634600-119647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:119634800-119643200	Weak transcription	Small Intestine	intestine
25	chr6:119634800-119646600	Weak transcription	Fetal Stomach	stomach
26	chr6:119634800-119647000	Weak transcription	Fetal Lung	lung
27	chr6:119635400-119637400	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:119635600-119637200	Enhancers	Psoas Muscle	Psoas
29	chr6:119635800-119637800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr6:119635800-119645600	Weak transcription	Fetal Intestine Small	intestine
31	chr6:119636000-119637200	Weak transcription	Esophagus	oesophagus
32	chr6:119636000-119643000	Weak transcription	Stomach Mucosa	stomach
33	chr6:119636000-119647200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:119636000-119661600	Weak transcription	Colonic Mucosa	Colon
35	chr6:119636200-119637200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:119636200-119637400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:119636200-119638400	Enhancers	Dnd41	blood
38	chr6:119636200-119638800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:119636200-119641000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:119636200-119643000	Weak transcription	Pancreas	Pancrea
41	chr6:119636200-119643200	Weak transcription	Lung	lung
42	chr6:119636200-119643200	Weak transcription	Right Atrium	heart
43	chr6:119636200-119647200	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:119636200-119647200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:119636200-119647200	Weak transcription	Spleen	Spleen
46	chr6:119636200-119650800	Weak transcription	Placenta	Placenta
47	chr6:119636200-119661600	Weak transcription	NHDF-Ad	bronchial
48	chr6:119636200-119662000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:119636200-119667400	Weak transcription	Right Ventricle	heart
50	chr6:119636200-119667800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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