Variant report

Variant	rs12315099
Chromosome Location	chr12:121176754-121176755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121166188..121170592-chr12:121174629..121177744,4	K562	blood:
2	chr12:121161408..121164023-chr12:121176552..121178436,2	K562	blood:
3	chr12:121158850..121162908-chr12:121176341..121179016,3	K562	blood:
4	chr12:120965517..120967163-chr12:121175492..121177700,2	K562	blood:
5	chr12:121171766..121173339-chr12:121175246..121177538,2	K562	blood:
6	chr11:67141023..67142718-chr12:121176121..121177621,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175505	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000256569	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000265455	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12299452	1.00[AFR][1000 genomes]

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	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	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121164000-121177000	Weak transcription	Aorta	Aorta
2	chr12:121164400-121177600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:121164400-121179600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:121164600-121177000	Weak transcription	Small Intestine	intestine
5	chr12:121164600-121177200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:121164600-121178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:121164800-121178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:121165000-121177800	Weak transcription	A549	lung
9	chr12:121165200-121179600	Weak transcription	Psoas Muscle	Psoas
10	chr12:121165600-121178000	Weak transcription	Stomach Mucosa	stomach
11	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
12	chr12:121167000-121178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:121168400-121179200	Weak transcription	HepG2	liver
14	chr12:121168600-121177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
16	chr12:121168800-121177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:121168800-121178800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:121168800-121178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:121169000-121176800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:121169000-121177600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:121169000-121177600	Weak transcription	Fetal Lung	lung
22	chr12:121169000-121178400	Weak transcription	Brain Substantia Nigra	brain
23	chr12:121169000-121178400	Weak transcription	Osteobl	bone
24	chr12:121169000-121178600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:121169200-121178200	Weak transcription	Brain Germinal Matrix	brain
26	chr12:121169200-121179000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:121169200-121179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:121169200-121180200	Weak transcription	Fetal Thymus	thymus
29	chr12:121171000-121178000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:121171800-121177600	Strong transcription	Fetal Intestine Large	intestine
31	chr12:121171800-121179200	Strong transcription	Fetal Stomach	stomach
32	chr12:121172600-121180000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:121174000-121177800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:121174000-121178000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:121174000-121178000	Genic enhancers	Spleen	Spleen
36	chr12:121174200-121177600	Strong transcription	Left Ventricle	heart
37	chr12:121174200-121177800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:121174200-121177800	Strong transcription	Gastric	stomach
39	chr12:121174200-121177800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr12:121174200-121178000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr12:121174200-121178200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:121174200-121178400	Strong transcription	Colonic Mucosa	Colon
43	chr12:121174200-121178800	Strong transcription	Right Ventricle	heart
44	chr12:121174400-121177800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:121174600-121177200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:121174600-121178000	Strong transcription	Lung	lung
47	chr12:121174600-121179000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:121174800-121177200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:121174800-121177800	Strong transcription	Adipose Nuclei	Adipose
50	chr12:121174800-121177800	Strong transcription	Thymus	Thymus

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