Variant report

Variant	rs2638540
Chromosome Location	chr6:119134516-119134517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1150121	1.00[EUR][1000 genomes]
rs1334651	1.00[EUR][1000 genomes]
rs1334923	1.00[EUR][1000 genomes]
rs1413907	1.00[EUR][1000 genomes]
rs1688637	1.00[EUR][1000 genomes]
rs1762192	1.00[EUR][1000 genomes]
rs2000111	1.00[EUR][1000 genomes]
rs2797353	1.00[EUR][1000 genomes]
rs2797354	1.00[EUR][1000 genomes]
rs284917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2884001	1.00[EUR][1000 genomes]
rs448134	1.00[EUR][1000 genomes]
rs59547233	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60554369	1.00[EUR][1000 genomes]
rs6903032	1.00[EUR][1000 genomes]
rs6914241	1.00[EUR][1000 genomes]
rs73519448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73519453	1.00[EUR][1000 genomes]
rs73519455	1.00[EUR][1000 genomes]
rs73521373	1.00[EUR][1000 genomes]
rs73521381	1.00[EUR][1000 genomes]
rs73523318	1.00[EUR][1000 genomes]
rs73523320	1.00[EUR][1000 genomes]
rs73523339	1.00[EUR][1000 genomes]
rs73523343	1.00[EUR][1000 genomes]
rs73523351	1.00[EUR][1000 genomes]
rs73523361	1.00[EUR][1000 genomes]
rs73523365	1.00[EUR][1000 genomes]
rs7751545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs794265	1.00[EUR][1000 genomes]
rs9372513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9401100	1.00[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119108800-119136000	Weak transcription	Aorta	Aorta
2	chr6:119113800-119136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119116600-119136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:119121800-119136000	Weak transcription	Fetal Intestine Large	intestine
5	chr6:119122000-119136400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:119122000-119147000	Weak transcription	Stomach Mucosa	stomach
7	chr6:119122200-119135000	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:119122200-119136000	Weak transcription	Fetal Intestine Small	intestine
9	chr6:119122200-119136000	Weak transcription	Fetal Stomach	stomach
10	chr6:119122200-119136200	Weak transcription	Esophagus	oesophagus
11	chr6:119122200-119136600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:119122200-119147000	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:119122400-119136000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:119122400-119136000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:119122400-119136200	Weak transcription	Pancreas	Pancrea
16	chr6:119122400-119136200	Weak transcription	HepG2	liver
17	chr6:119122400-119136800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:119122400-119146800	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:119122600-119136200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:119122600-119144000	Weak transcription	Brain Angular Gyrus	brain
21	chr6:119125600-119136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:119125600-119143600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:119126200-119138800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:119128600-119151600	Weak transcription	Colonic Mucosa	Colon
25	chr6:119129800-119135000	Weak transcription	Adipose Nuclei	Adipose
26	chr6:119130200-119135600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:119130600-119135800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:119130600-119146400	Weak transcription	Psoas Muscle	Psoas
29	chr6:119130800-119135200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:119130800-119135800	Weak transcription	Left Ventricle	heart
31	chr6:119130800-119136000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:119130800-119136000	Weak transcription	Lung	lung
33	chr6:119130800-119136200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:119130800-119143000	Weak transcription	Fetal Lung	lung
35	chr6:119131000-119136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:119131000-119136200	Weak transcription	Ovary	ovary
37	chr6:119131000-119136400	Weak transcription	Spleen	Spleen
38	chr6:119131000-119137000	Weak transcription	K562	blood
39	chr6:119131800-119136600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:119132000-119136200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:119132000-119136200	Weak transcription	Gastric	stomach
42	chr6:119132000-119136400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:119132000-119136400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:119132000-119137000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:119132200-119135000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:119132200-119135600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:119132200-119135800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:119132200-119135800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:119132200-119136000	Weak transcription	Primary T cells from cord blood	blood
50	chr6:119132200-119136000	Weak transcription	Duodenum Mucosa	Duodenum

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