Variant report

Variant	rs11006943
Chromosome Location	chr10:28530310-28530311
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	POLR2A	chr10:28530168-28530317	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr10:28530189-28531292	A549	lung:	n/a	chr10:28530906-28530924 chr10:28530907-28530923 chr10:28530901-28530922

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:28529981..28531493-chr10:28533633..28535670,2	K562	blood:

Variant related genes	Relation type
MPP7	TF binding region

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

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

rs_ID	r²[population]
rs11006925	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11006944	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11006978	0.82[YRI][hapmap]
rs12244014	0.81[AFR][1000 genomes]
rs12245970	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12248194	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12252045	0.81[AFR][1000 genomes]
rs12253728	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12255835	0.81[AFR][1000 genomes]
rs12257713	0.81[AFR][1000 genomes]
rs12264621	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12268225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12268288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58397019	0.81[AFR][1000 genomes]
rs73608073	0.81[AFR][1000 genomes]
rs73608076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608078	0.81[AFR][1000 genomes]
rs73608079	1.00[AFR][1000 genomes];1.00[AMR][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	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv525448	chr10:28337570-28563732	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv831817	chr10:28369836-28539930	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28498200-28531200	Weak transcription	Primary B cells from cord blood	blood
2	chr10:28498200-28537000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:28502000-28531600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:28507400-28530600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:28507600-28531000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:28510800-28530400	Weak transcription	HSMMtube	muscle
7	chr10:28516800-28530400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:28518400-28531000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:28519000-28552000	Weak transcription	Fetal Stomach	stomach
10	chr10:28521200-28538600	Weak transcription	Left Ventricle	heart
11	chr10:28521800-28544400	Weak transcription	Pancreas	Pancrea
12	chr10:28522000-28531400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:28522400-28537000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:28523400-28530400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr10:28523600-28531400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr10:28524000-28537000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:28524200-28537000	Weak transcription	Esophagus	oesophagus
18	chr10:28524400-28530600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr10:28524800-28536600	Weak transcription	HSMM	muscle
20	chr10:28525200-28530600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:28525800-28537000	Weak transcription	Aorta	Aorta
22	chr10:28526200-28531400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:28526800-28531400	Weak transcription	Primary T cells from cord blood	blood
24	chr10:28527400-28530800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr10:28527400-28531000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr10:28527400-28531000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr10:28527600-28530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr10:28527600-28530600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr10:28527600-28531000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr10:28527600-28531400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr10:28527600-28531400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:28527600-28539600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:28529000-28530600	Weak transcription	HepG2	liver
34	chr10:28529200-28530600	Weak transcription	Fetal Lung	lung
35	chr10:28529800-28530600	Weak transcription	Adipose Nuclei	Adipose
36	chr10:28530200-28530800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr10:28530200-28530800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr10:28530200-28531000	Enhancers	Hela-S3	cervix

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