Variant report

Variant	rs2686348
Chromosome Location	chr12:121723268-121723269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121721312..121723711-chr12:121725911..121728567,2	K562	blood:
2	chr12:121720961..121723976-chr12:121732566..121735002,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110931	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1151881	1.00[AMR][1000 genomes]
rs1151883	1.00[AMR][1000 genomes]
rs1151884	1.00[AMR][1000 genomes]
rs1151888	1.00[AMR][1000 genomes]
rs1151889	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1151891	1.00[AMR][1000 genomes]
rs1151892	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1612131	1.00[AMR][1000 genomes]
rs1718122	1.00[AMR][1000 genomes]
rs2393845	1.00[AMR][1000 genomes]
rs2436162	1.00[AMR][1000 genomes]
rs891779	1.00[AMR][1000 genomes]
rs891780	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
2	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:121706600-121726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:121707000-121733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:121707400-121733200	Weak transcription	HSMM	muscle
6	chr12:121707600-121724600	Weak transcription	Fetal Brain Male	brain
7	chr12:121708800-121730200	Weak transcription	HepG2	liver
8	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
9	chr12:121709200-121726000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:121711400-121732200	Weak transcription	Hela-S3	cervix
11	chr12:121711800-121732200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:121712000-121725400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:121712000-121729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:121712000-121732000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:121712200-121726000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:121712200-121728400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:121712400-121727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:121712400-121733000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:121712400-121733200	Weak transcription	Aorta	Aorta
20	chr12:121712600-121726200	Weak transcription	Thymus	Thymus
21	chr12:121712600-121732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:121713000-121728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:121713000-121732200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:121715200-121730200	Weak transcription	A549	lung
25	chr12:121715400-121731400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:121715600-121733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:121715600-121733000	Weak transcription	NHEK	skin
28	chr12:121716200-121727600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:121716800-121726200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:121717000-121725800	Weak transcription	GM12878-XiMat	blood
31	chr12:121717000-121732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:121717400-121724000	Weak transcription	Primary B cells from cord blood	blood
33	chr12:121717400-121730200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:121717600-121725400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:121717600-121727000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:121717600-121727800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:121717600-121728600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:121717600-121733000	Weak transcription	Esophagus	oesophagus
39	chr12:121717600-121733000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:121717800-121724400	Weak transcription	Brain Angular Gyrus	brain
41	chr12:121717800-121724400	Weak transcription	NHDF-Ad	bronchial
42	chr12:121717800-121725400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:121717800-121726200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:121717800-121726400	Weak transcription	Stomach Mucosa	stomach
45	chr12:121717800-121727400	Weak transcription	Gastric	stomach
46	chr12:121717800-121727800	Weak transcription	Fetal Brain Female	brain
47	chr12:121717800-121731400	Weak transcription	HMEC	breast
48	chr12:121717800-121733200	Weak transcription	NH-A	brain
49	chr12:121718000-121726000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:121718000-121726400	Weak transcription	Brain Cingulate Gyrus	brain

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