Variant report

Variant	rs10744287
Chromosome Location	chr12:123077485-123077486
allele	A/T
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	chr12:123077203-123077502	K562	blood:	n/a	n/a
2	HEY1	chr12:123077273-123077536	K562	blood:	n/a	n/a
3	HEY1	chr12:123077261-123077511	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:123077017-123077656	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:123077252-123077571	K562	blood:	n/a	n/a
6	POLR2A	chr12:123077326-123077506	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:123077258-123077589	K562	blood:	n/a	n/a
8	POLR2A	chr12:123077311-123077514	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123075043..123077747-chr12:123078360..123080361,2	MCF-7	breast:

Variant related genes	Relation type
KNTC1	TF binding region
ENSG00000184445	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10734924	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10744211	0.88[JPT][hapmap]
rs10744275	0.96[ASN][1000 genomes]
rs10773152	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs10773208	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10773302	0.89[ASN][1000 genomes]
rs10773394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10846921	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10846978	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10847242	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10998	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11058226	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11058402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1392236	0.97[ASN][1000 genomes]
rs1473553	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1973463	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs2062506	0.86[ASN][1000 genomes]
rs2173628	0.91[ASN][1000 genomes]
rs3803005	0.93[ASN][1000 genomes]
rs4319547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4758643	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs4758648	0.85[CHB][hapmap]
rs4758666	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6488958	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6489071	0.81[ASN][1000 genomes]
rs6489156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6489157	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6489158	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295105	0.93[ASN][1000 genomes]
rs7295397	0.95[ASN][1000 genomes]
rs7307233	0.93[ASN][1000 genomes]
rs7307735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7309390	0.93[ASN][1000 genomes]
rs7314638	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7316149	0.97[ASN][1000 genomes]
rs7316734	0.95[ASN][1000 genomes]
rs7397990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7954006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7955203	0.89[ASN][1000 genomes]
rs7959238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7964138	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7966094	0.95[ASN][1000 genomes]
rs7972728	0.86[ASN][1000 genomes]
rs9705654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9988963	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases
3	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2761772	chr12:123045674-123115508	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv983478	chr12:123062133-123080307	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
3	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
4	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:123013400-123080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
12	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:123014400-123084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:123014600-123085400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:123015400-123079800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:123015600-123115000	Strong transcription	Dnd41	blood
17	chr12:123022200-123084600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
19	chr12:123026000-123081000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:123029200-123085000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:123029200-123107600	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:123032600-123095400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:123037200-123113000	Weak transcription	Brain Anterior Caudate	brain
24	chr12:123037600-123095400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:123037800-123100600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
27	chr12:123042600-123107200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:123042800-123080000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:123046400-123084800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:123047200-123080600	Strong transcription	Fetal Thymus	thymus
32	chr12:123047800-123078800	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:123050800-123112600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:123050800-123115200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:123052400-123080200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr12:123052600-123079600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:123057400-123084400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:123058600-123110200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:123060200-123113000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:123065000-123078400	Weak transcription	NHDF-Ad	bronchial
42	chr12:123067200-123094200	Weak transcription	Fetal Kidney	kidney
43	chr12:123067400-123095600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:123067600-123090000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:123067800-123089200	Weak transcription	Placenta	Placenta
46	chr12:123068000-123095400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:123069400-123079400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:123069600-123099400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:123069800-123078800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr12:123070600-123078000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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