Variant report

Variant	rs2038768
Chromosome Location	chr6:119608152-119608153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119607943..119609884-chr6:119670447..119672161,2	K562	blood:
2	chr6:119606943..119609052-chr6:119667352..119668942,2	K562	blood:
3	chr6:119606752..119608778-chr6:119610247..119612125,3	K562	blood:
4	chr6:119606752..119608656-chr6:119610580..119612125,2	K562	blood:

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs17442217	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17442238	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442343	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17442505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17514202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17526989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17527003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17527153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17536339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17619366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3798611	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56320899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56926474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6569064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6911026	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6926266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6933973	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6941142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6941514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73769010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73769011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7740521	1.00[EUR][1000 genomes]
rs7740969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7743309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7748940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7763451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7763610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7767940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489640	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489641	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489642	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489643	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489652	0.88[EUR][1000 genomes]
rs9489655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489659	1.00[AMR][1000 genomes];1.00[EUR][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119589200-119611000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:119590600-119621800	Weak transcription	Placenta	Placenta
3	chr6:119590800-119617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:119590800-119626600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:119591000-119624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:119592200-119622200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:119592400-119610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:119592400-119620800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:119592400-119633600	Weak transcription	Primary T cells from cord blood	blood
10	chr6:119592600-119622200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:119592600-119627200	Weak transcription	Dnd41	blood
12	chr6:119593000-119622200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:119593000-119624800	Weak transcription	Fetal Thymus	thymus
14	chr6:119593000-119626800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:119597200-119627400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:119597600-119610800	Weak transcription	Fetal Kidney	kidney
17	chr6:119599200-119619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:119599800-119611400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:119599800-119632600	Weak transcription	Spleen	Spleen
20	chr6:119600000-119608800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr6:119600000-119629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:119600400-119624000	Weak transcription	Fetal Stomach	stomach
23	chr6:119601400-119611000	Weak transcription	Small Intestine	intestine
24	chr6:119602400-119629200	Weak transcription	NH-A	brain
25	chr6:119602600-119627400	Weak transcription	Gastric	stomach
26	chr6:119602600-119629000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:119602600-119635600	Weak transcription	Esophagus	oesophagus
28	chr6:119602800-119610800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:119602800-119617400	Weak transcription	Left Ventricle	heart
30	chr6:119603400-119616800	Weak transcription	Fetal Intestine Small	intestine
31	chr6:119603400-119626800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:119604400-119615200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:119604400-119626600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:119604800-119610600	Weak transcription	Fetal Lung	lung
35	chr6:119604800-119616800	Weak transcription	Aorta	Aorta
36	chr6:119605000-119613000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:119605200-119608200	Weak transcription	Primary B cells from cord blood	blood
38	chr6:119605200-119617400	Weak transcription	Pancreas	Pancrea
39	chr6:119605400-119610800	Weak transcription	Adipose Nuclei	Adipose
40	chr6:119605600-119615200	Strong transcription	K562	blood
41	chr6:119605600-119617400	Strong transcription	HepG2	liver
42	chr6:119605600-119622400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:119605600-119626600	Weak transcription	GM12878-XiMat	blood
44	chr6:119606200-119626800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:119606400-119608400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:119606800-119609200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:119607200-119610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:119607200-119616200	Weak transcription	Fetal Intestine Large	intestine
49	chr6:119607200-119626800	Weak transcription	Colon Smooth Muscle	Colon
50	chr6:119607400-119610600	Weak transcription	NHDF-Ad	bronchial

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