Variant report

Variant	rs12671052
Chromosome Location	chr7:10972673-10972674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:10972604..10974203-chr7:11013490..11015178,2	K562	blood:
2	chr7:10971957..10975609-chr7:11018033..11021117,4	K562	blood:
3	chr7:10972604..10974747-chr7:11013678..11015868,2	K562	blood:
4	chr7:10972277..10974447-chr7:11011761..11013440,2	K562	blood:
5	chr7:10966685..10968984-chr7:10971328..10972857,2	K562	blood:
6	chr7:10958230..10961956-chr7:10970091..10974620,4	K562	blood:

Variant related genes	Relation type
ENSG00000106443	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

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]
rs12667441	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]
rs12670712	0.93[ASN][1000 genomes]
rs12671354	0.93[ASN][1000 genomes]
rs17163776	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17163797	1.00[ASN][1000 genomes]
rs17163801	0.94[ASN][1000 genomes]
rs28619028	1.00[AMR][1000 genomes]
rs6460777	1.00[AMR][1000 genomes]
rs6953777	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6954530	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	nsv970794	chr7:10972175-10973744	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10960400-10974600	Weak transcription	Fetal Heart	heart
2	chr7:10963200-10978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:10964200-10975200	Weak transcription	Esophagus	oesophagus
4	chr7:10967000-10975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:10967000-10975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:10968200-10973600	Weak transcription	Aorta	Aorta
7	chr7:10968400-10974600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:10968400-10975000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:10968600-10974200	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:10968800-10974600	Weak transcription	Fetal Intestine Small	intestine
11	chr7:10968800-10974800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:10968800-10975000	Weak transcription	Brain Substantia Nigra	brain
13	chr7:10969000-10974600	Weak transcription	Brain Anterior Caudate	brain
14	chr7:10969200-10974800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:10969200-10975000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:10969200-10979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:10969600-10976400	Weak transcription	Pancreas	Pancrea
18	chr7:10969600-10978400	Weak transcription	Colonic Mucosa	Colon
19	chr7:10969800-10977400	Strong transcription	Fetal Thymus	thymus
20	chr7:10970000-10973000	Strong transcription	Brain Germinal Matrix	brain
21	chr7:10970000-10973200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:10970000-10975000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:10970000-10977800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:10970200-10972800	Strong transcription	Fetal Brain Female	brain
25	chr7:10970200-10972800	Strong transcription	Fetal Muscle Leg	muscle
26	chr7:10970200-10973000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:10970200-10973000	Strong transcription	Primary T cells from cord blood	blood
28	chr7:10970200-10973400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:10970200-10973600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:10970200-10974000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr7:10970200-10975200	Weak transcription	Gastric	stomach
32	chr7:10970200-10975800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:10970400-10972800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:10970400-10972800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:10970400-10973800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr7:10970400-10973800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:10970400-10974000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:10970400-10974000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:10970400-10974200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:10970400-10977600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:10970400-10977800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:10970600-10972800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr7:10970600-10973600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:10970600-10978200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:10970800-10978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:10971000-10972800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:10971000-10978000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:10971200-10972800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:10971200-10973200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr7:10971200-10973800	Strong transcription	A549	lung

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