Variant report

Variant	rs12667441
Chromosome Location	chr7:10976057-10976058
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	chr7:10975888-10976114	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:10975457-10976060	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:10974609-10976909	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:
2	chr7:10975492..10977726-chr7:10981592..10983238,2	MCF-7	breast:
3	chr7:10932953..10935447-chr7:10974620..10977431,2	K562	blood:

Variant related genes	Relation type
ENSG00000271185	TF binding region
ENSG00000106443	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10225652	0.80[ASN][1000 genomes]
rs10239487	1.00[AMR][1000 genomes]
rs10266191	1.00[AMR][1000 genomes]
rs10268965	0.86[ASN][1000 genomes]
rs10272761	1.00[AMR][1000 genomes]
rs10273278	1.00[AMR][1000 genomes]
rs12667351	1.00[ASN][1000 genomes]
rs12670712	0.93[ASN][1000 genomes]
rs12671052	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671354	0.93[ASN][1000 genomes]
rs17149830	0.82[CHB][hapmap]
rs17163776	0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs17163797	1.00[ASN][1000 genomes]
rs17163801	0.94[ASN][1000 genomes]
rs17163914	0.83[CHB][hapmap]
rs28619028	1.00[AMR][1000 genomes]
rs6460777	1.00[AMR][1000 genomes]
rs6953777	0.92[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs6954530	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7779280	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1018905	chr7:10679889-10980691	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers 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
13	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv464364	chr7:10904752-10988866	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv606193	chr7:10904752-10988866	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv1027289	chr7:10976057-10992462	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr7:10963200-10978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:10969200-10979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:10969600-10976400	Weak transcription	Pancreas	Pancrea
4	chr7:10969600-10978400	Weak transcription	Colonic Mucosa	Colon
5	chr7:10969800-10977400	Strong transcription	Fetal Thymus	thymus
6	chr7:10970000-10977800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:10970400-10977600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:10970400-10977800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:10970600-10978200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:10970800-10978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:10971000-10978000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:10971200-10977000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:10971200-10978000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:10971200-10979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:10971400-10977000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr7:10971400-10978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:10971600-10976600	Strong transcription	Dnd41	blood
18	chr7:10971600-10977400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:10971600-10977400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:10971600-10977600	Strong transcription	Liver	Liver
21	chr7:10971600-10977600	Strong transcription	K562	blood
22	chr7:10971600-10977800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr7:10971600-10977800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:10971600-10977800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:10971600-10977800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr7:10971600-10977800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:10971800-10976800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:10971800-10977800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:10972000-10977600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:10972000-10977600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:10972000-10977800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:10972000-10978200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:10972200-10977400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:10972200-10977600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:10972200-10977800	Strong transcription	Placenta	Placenta
36	chr7:10972400-10978400	Weak transcription	Stomach Mucosa	stomach
37	chr7:10972600-10978400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:10972800-10976400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:10973200-10978200	Weak transcription	NHEK	skin
40	chr7:10973600-10976400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:10974200-10977400	Strong transcription	Primary T cells from cord blood	blood
42	chr7:10974200-10977400	Genic enhancers	Colon Smooth Muscle	Colon
43	chr7:10974400-10977400	Strong transcription	Brain Germinal Matrix	brain
44	chr7:10974600-10976200	Strong transcription	Fetal Brain Male	brain
45	chr7:10974600-10977400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:10974600-10977400	Strong transcription	NH-A	brain
47	chr7:10974600-10977800	Strong transcription	A549	lung
48	chr7:10974800-10976800	Strong transcription	HepG2	liver
49	chr7:10974800-10977200	Strong transcription	Primary B cells from cord blood	blood
50	chr7:10974800-10977400	Strong transcription	Fetal Muscle Trunk	muscle

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