Variant report

Variant	rs10498198
Chromosome Location	chr11:4124731-4124732
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4114277..4116935-chr11:4123036..4125551,3	K562	blood:
2	chr11:4117926..4120153-chr11:4124381..4126290,2	K562	blood:

Variant related genes	Relation type
ENSG00000167325	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11031003	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11031065	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11031082	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11031136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs12271818	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12273142	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12273534	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12273972	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12274313	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12288551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12288914	0.92[EUR][1000 genomes]
rs12295358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2268166	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268167	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55666376	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58517549	0.80[EUR][1000 genomes]
rs7130539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74051925	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74054319	0.83[ASN][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	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4117000-4137200	Weak transcription	Esophagus	oesophagus
2	chr11:4117000-4141000	Weak transcription	Ovary	ovary
3	chr11:4117200-4126800	Weak transcription	Psoas Muscle	Psoas
4	chr11:4117200-4127400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:4117200-4142200	Weak transcription	Colonic Mucosa	Colon
6	chr11:4117400-4125800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:4117400-4141800	Weak transcription	Small Intestine	intestine
8	chr11:4117600-4124800	Weak transcription	Fetal Intestine Small	intestine
9	chr11:4117600-4125200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:4117600-4125800	Weak transcription	Liver	Liver
11	chr11:4117600-4126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:4117600-4126400	Weak transcription	Fetal Intestine Large	intestine
13	chr11:4117600-4126600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:4117600-4126600	Weak transcription	Spleen	Spleen
15	chr11:4117600-4127000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:4117600-4127000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:4117600-4127200	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:4117600-4127200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:4117600-4128600	Weak transcription	Brain Substantia Nigra	brain
20	chr11:4117600-4129200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:4117600-4129800	Weak transcription	Fetal Heart	heart
22	chr11:4117600-4133000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:4117600-4137400	Weak transcription	Right Ventricle	heart
24	chr11:4117600-4144600	Weak transcription	HSMMtube	muscle
25	chr11:4117600-4145200	Weak transcription	Gastric	stomach
26	chr11:4117600-4153000	Weak transcription	Stomach Mucosa	stomach
27	chr11:4117800-4124800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr11:4117800-4126400	Weak transcription	Brain Angular Gyrus	brain
29	chr11:4117800-4126400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:4117800-4126800	Weak transcription	NHLF	lung
31	chr11:4117800-4127000	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:4117800-4147800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:4117800-4160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:4118000-4125200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:4118000-4159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:4118400-4124800	Weak transcription	Pancreas	Pancrea
37	chr11:4118400-4125800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:4118400-4126200	Weak transcription	Fetal Lung	lung
39	chr11:4118400-4127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:4118400-4146400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:4118400-4156200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:4118600-4125800	Weak transcription	HUVEC	blood vessel
43	chr11:4118800-4126600	Weak transcription	NHEK	skin
44	chr11:4118800-4141000	Weak transcription	Brain Germinal Matrix	brain
45	chr11:4119000-4126000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:4119000-4126400	Weak transcription	Thymus	Thymus
47	chr11:4119000-4127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:4119000-4127200	Weak transcription	Fetal Kidney	kidney
49	chr11:4119000-4137800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:4119200-4124800	Weak transcription	Muscle Satellite Cultured Cells	--

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