Variant report

Variant	rs12257238
Chromosome Location	chr10:18826273-18826274
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	chr10:18824996..18829139-chr10:18831210..18835804,4	K562	blood:

Variant related genes	Relation type
ENSG00000240291	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11015019	1.00[AMR][1000 genomes]
rs11015036	0.83[AMR][1000 genomes]
rs11498244	1.00[AMR][1000 genomes]
rs12249604	1.00[AMR][1000 genomes]
rs12267405	0.86[AFR][1000 genomes]
rs17363677	1.00[AMR][1000 genomes]
rs59666381	1.00[AMR][1000 genomes]
rs61298471	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1042073	chr10:18806900-18838303	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv34545	chr10:18821185-18908294	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18800200-18826800	Weak transcription	Brain Substantia Nigra	brain
2	chr10:18800400-18827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:18802600-18828000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:18802600-18828200	Weak transcription	Lung	lung
5	chr10:18807200-18826800	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:18807400-18828000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:18808000-18828000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:18808400-18827000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:18809000-18827000	Weak transcription	Small Intestine	intestine
10	chr10:18810400-18828000	Weak transcription	Brain Angular Gyrus	brain
11	chr10:18810600-18827000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr10:18810600-18828200	Weak transcription	Aorta	Aorta
13	chr10:18810800-18828000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:18811000-18826800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:18812400-18827000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:18812800-18827000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:18814000-18828000	Weak transcription	Esophagus	oesophagus
18	chr10:18814600-18827000	Weak transcription	Thymus	Thymus
19	chr10:18814800-18827600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:18815000-18826800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr10:18815200-18843600	Weak transcription	A549	lung
22	chr10:18815800-18828000	Weak transcription	K562	blood
23	chr10:18816400-18830400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:18816400-18841800	Strong transcription	Liver	Liver
25	chr10:18816800-18829600	Weak transcription	HSMMtube	muscle
26	chr10:18817400-18829000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr10:18818800-18828000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:18818800-18828400	Weak transcription	Fetal Thymus	thymus
29	chr10:18819200-18826800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr10:18819200-18827000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr10:18819400-18827000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:18819600-18827400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr10:18819600-18828000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:18819800-18826800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr10:18819800-18827400	Weak transcription	Fetal Brain Male	brain
36	chr10:18819800-18829800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:18820000-18828400	Weak transcription	Fetal Muscle Leg	muscle
38	chr10:18820000-18829800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:18820800-18841600	Weak transcription	Hela-S3	cervix
40	chr10:18821000-18827000	Weak transcription	Primary B cells from cord blood	blood
41	chr10:18822000-18827200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr10:18822000-18840400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr10:18822000-18848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr10:18822200-18830400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr10:18822400-18829600	Weak transcription	HSMM	muscle
46	chr10:18822400-18833600	Strong transcription	Primary T cells from cord blood	blood
47	chr10:18822600-18829000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:18822600-18830600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:18822800-18830600	Strong transcription	Left Ventricle	heart
50	chr10:18822800-18841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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