Variant report

Variant	rs2183270
Chromosome Location	chr10:21957253-21957254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr10:21957123-21957298	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:21957063-21957306	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:21938514..21940778-chr10:21955713..21957412,2	K562	blood:
2	chr10:21956427..21959026-chr10:21960604..21963223,2	K562	blood:

Variant related genes	Relation type
MLLT10	TF binding region
ENSG00000078403	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10047405	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10218956	1.00[EUR][1000 genomes]
rs11012731	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11012742	1.00[EUR][1000 genomes]
rs11597384	1.00[CHD][hapmap]
rs12245121	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12249032	0.84[ASW][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12250810	1.00[EUR][1000 genomes]
rs12251128	1.00[AMR][1000 genomes]
rs12251847	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12260551	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12266450	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12358376	1.00[GIH][hapmap]
rs12776236	1.00[CHD][hapmap]
rs17744912	1.00[CHD][hapmap]
rs59876709	1.00[EUR][1000 genomes]
rs7068942	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7083214	0.86[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7904218	0.86[ASW][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7911585	1.00[EUR][1000 genomes]
rs9971055	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036585	chr10:21833717-21998042	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv550202	chr10:21856475-22027644	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv894947	chr10:21869609-22117913	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv1792771	chr10:21874152-22013644	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1803077	chr10:21878144-22013644	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv550203	chr10:21916468-22062729	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21896800-21973200	Weak transcription	Hela-S3	cervix
2	chr10:21897400-21960200	Weak transcription	Fetal Brain Male	brain
3	chr10:21908400-21964000	Weak transcription	Colonic Mucosa	Colon
4	chr10:21915200-21983800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:21915400-21967000	Weak transcription	Pancreas	Pancrea
6	chr10:21917200-21967400	Weak transcription	Brain Angular Gyrus	brain
7	chr10:21920000-21965600	Weak transcription	Esophagus	oesophagus
8	chr10:21923800-21983200	Weak transcription	NHLF	lung
9	chr10:21924200-21962400	Weak transcription	HSMM	muscle
10	chr10:21928600-21988200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:21928800-21957800	Weak transcription	HSMMtube	muscle
12	chr10:21928800-21962400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr10:21928800-21970200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:21928800-21974400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:21929800-21988000	Weak transcription	HUVEC	blood vessel
16	chr10:21931000-21958800	Weak transcription	GM12878-XiMat	blood
17	chr10:21938600-21975600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:21938600-21993800	Weak transcription	Lung	lung
19	chr10:21938800-21962400	Weak transcription	Aorta	Aorta
20	chr10:21938800-21964400	Weak transcription	Spleen	Spleen
21	chr10:21938800-21969600	Weak transcription	NHEK	skin
22	chr10:21939200-21958800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr10:21942200-21962200	Weak transcription	Liver	Liver
24	chr10:21942400-21959400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:21942400-21961800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr10:21942400-21962400	Weak transcription	NHDF-Ad	bronchial
27	chr10:21942400-21962400	Weak transcription	Osteobl	bone
28	chr10:21942400-21970000	Weak transcription	HMEC	breast
29	chr10:21942400-21976200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:21942400-21977400	Weak transcription	Adipose Nuclei	Adipose
31	chr10:21942400-21987200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:21942600-21962200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr10:21942600-21962400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:21942600-22004000	Weak transcription	NH-A	brain
35	chr10:21942800-21958800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr10:21942800-21962400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:21942800-21988400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr10:21943000-21957600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:21943000-21962400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:21943000-21969800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:21943200-21961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr10:21943200-21961800	Weak transcription	Fetal Thymus	thymus
43	chr10:21943800-21961000	Weak transcription	Fetal Lung	lung
44	chr10:21943800-22002000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:21945000-21965000	Weak transcription	Gastric	stomach
46	chr10:21945200-21959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:21945200-21962200	Weak transcription	Primary B cells from cord blood	blood
48	chr10:21945200-21976400	Weak transcription	Right Ventricle	heart
49	chr10:21948600-21962400	Weak transcription	Left Ventricle	heart
50	chr10:21949600-21961000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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