Variant report

Variant	rs12571529
Chromosome Location	chr10:27441351-27441352
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	CCNT2	chr10:27441296-27441493	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27426913..27428893-chr10:27439764..27442698,2	MCF-7	breast:
2	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:

Variant related genes	Relation type
MASTL	TF binding region
ENSG00000262412	Chromatin interaction
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11015447	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11015449	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11015546	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12411984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12414273	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12415376	1.00[AFR][1000 genomes]
rs12415390	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs12416077	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12416080	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12569491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12570065	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12570662	0.88[JPT][hapmap];1.00[AFR][1000 genomes]
rs12572302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572325	0.82[JPT][hapmap];1.00[AFR][1000 genomes]
rs12572707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12572862	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs12573268	0.82[ASN][1000 genomes]
rs1329993	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2297144	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28365962	0.98[ASN][1000 genomes]
rs3758404	0.95[ASN][1000 genomes]
rs3780924	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3780925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781101	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3781102	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3802526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3818633	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824592	0.98[ASN][1000 genomes]
rs3824690	1.00[AFR][1000 genomes]
rs4747586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749222	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4749227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4749229	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749234	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73598035	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27390000-27442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:27419400-27441400	Weak transcription	Stomach Mucosa	stomach
3	chr10:27428000-27441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:27431800-27442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:27432800-27441400	Weak transcription	Psoas Muscle	Psoas
6	chr10:27435600-27442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:27436800-27441400	Weak transcription	Small Intestine	intestine
8	chr10:27437000-27441600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:27437200-27441600	Weak transcription	Colonic Mucosa	Colon
10	chr10:27437400-27441400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:27437400-27441600	Weak transcription	Aorta	Aorta
12	chr10:27437400-27442600	Weak transcription	Gastric	stomach
13	chr10:27437400-27442800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:27437600-27441400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:27437600-27441400	Weak transcription	HSMMtube	muscle
16	chr10:27437800-27441400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:27438000-27441400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr10:27438000-27441400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:27438000-27441400	Weak transcription	Right Ventricle	heart
20	chr10:27438000-27441600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:27438000-27441600	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:27438000-27442000	Weak transcription	Lung	lung
23	chr10:27438000-27442600	Weak transcription	Pancreas	Pancrea
24	chr10:27438400-27441400	Weak transcription	Liver	Liver
25	chr10:27438600-27441400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:27438600-27441400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:27438600-27441400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:27438600-27441400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr10:27438600-27441400	Weak transcription	Thymus	Thymus
30	chr10:27438600-27441600	Weak transcription	Fetal Stomach	stomach
31	chr10:27438600-27441600	Weak transcription	Fetal Thymus	thymus
32	chr10:27438600-27441600	Weak transcription	Spleen	Spleen
33	chr10:27438600-27442200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:27438600-27442600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:27438600-27442600	Weak transcription	Esophagus	oesophagus
36	chr10:27438800-27441400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr10:27438800-27442400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:27438800-27442400	Weak transcription	Placenta	Placenta
39	chr10:27439000-27441400	Weak transcription	Fetal Intestine Small	intestine
40	chr10:27439200-27441400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr10:27439200-27441600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:27439200-27442200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:27439400-27441400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr10:27439400-27441400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:27439800-27441400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr10:27439800-27441400	Weak transcription	Fetal Brain Female	brain
47	chr10:27439800-27441600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:27440200-27441400	Enhancers	Primary T cells from cord blood	blood
49	chr10:27440200-27441400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr10:27440200-27441400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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