Variant report

Variant	rs12253703
Chromosome Location	chr10:27813774-27813775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27804136..27807290-chr10:27811271..27813814,3	K562	blood:
2	chr10:27808762..27810610-chr10:27813283..27816177,3	K562	blood:
3	chr10:27802914..27806574-chr10:27810162..27816250,5	MCF-7	breast:
4	chr10:27791661..27794464-chr10:27811491..27814679,3	K562	blood:
5	chr10:27813292..27818525-chr10:27818980..27823484,5	K562	blood:

Variant related genes	Relation type
ENSG00000099246	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10437435	1.00[AMR][1000 genomes]
rs11015809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11015822	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12240762	1.00[AMR][1000 genomes]
rs12242389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12245719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12245917	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12261080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12265154	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16928129	1.00[AMR][1000 genomes]
rs73604013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604025	1.00[AMR][1000 genomes]
rs74127330	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7923439	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1053952	chr10:27659365-27915029	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27794200-27817000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:27794400-27824000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:27794400-27837400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:27794800-27814200	Weak transcription	Ovary	ovary
5	chr10:27794800-27814600	Weak transcription	HSMMtube	muscle
6	chr10:27794800-27822800	Weak transcription	Colonic Mucosa	Colon
7	chr10:27794800-27823200	Weak transcription	Esophagus	oesophagus
8	chr10:27794800-27823200	Weak transcription	Spleen	Spleen
9	chr10:27795200-27813800	Weak transcription	Fetal Brain Male	brain
10	chr10:27795200-27816800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr10:27795600-27814800	Weak transcription	Pancreas	Pancrea
12	chr10:27795600-27816800	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:27795800-27822600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:27795800-27832600	Weak transcription	Small Intestine	intestine
15	chr10:27796000-27814600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:27799600-27813800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr10:27800800-27823200	Weak transcription	Brain Anterior Caudate	brain
18	chr10:27801000-27815200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:27801000-27816600	Weak transcription	HUVEC	blood vessel
20	chr10:27801600-27813800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:27801800-27829000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:27803200-27818200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr10:27803200-27822600	Weak transcription	NH-A	brain
24	chr10:27803400-27814000	Weak transcription	A549	lung
25	chr10:27803400-27814200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr10:27803400-27822400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr10:27803400-27823200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr10:27803400-27823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:27803400-27830800	Weak transcription	Hela-S3	cervix
30	chr10:27803800-27814600	Weak transcription	Osteobl	bone
31	chr10:27803800-27817000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr10:27803800-27817200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr10:27804000-27813800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:27804000-27814800	Weak transcription	HSMM	muscle
35	chr10:27804000-27816800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:27804000-27817400	Weak transcription	Fetal Muscle Leg	muscle
37	chr10:27804000-27817600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr10:27804000-27822600	Weak transcription	Dnd41	blood
39	chr10:27804000-27823000	Weak transcription	Lung	lung
40	chr10:27804000-27823000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr10:27804000-27823200	Weak transcription	Gastric	stomach
42	chr10:27804000-27823400	Weak transcription	Aorta	Aorta
43	chr10:27804200-27814000	Weak transcription	Liver	Liver
44	chr10:27804200-27814600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:27804200-27814800	Weak transcription	Adipose Nuclei	Adipose
46	chr10:27804200-27818200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:27804200-27822400	Weak transcription	HMEC	breast
48	chr10:27804200-27822600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:27804400-27822800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:27804600-27813800	Weak transcription	Fetal Brain Female	brain

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