Variant report

Variant	rs16948179
Chromosome Location	chr12:118630453-118630454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118629113..118632294-chr12:118813183..118816141,3	MCF-7	breast:
2	chr12:118629722..118631578-chr12:118673558..118677291,3	K562	blood:
3	chr12:118629679..118631929-chr12:118813137..118814645,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111707	Chromatin interaction
ENSG00000270482	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16939761	1.00[MEX][hapmap];1.00[YRI][hapmap]
rs16948252	0.91[EUR][1000 genomes]
rs17440315	1.00[YRI][hapmap]
rs17512142	1.00[LWK][hapmap];1.00[YRI][hapmap]

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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv976759	chr12:118628348-118632005	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118617200-118634400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:118619200-118638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:118619400-118635200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:118619400-118635800	Weak transcription	Gastric	stomach
5	chr12:118619400-118635800	Weak transcription	Spleen	Spleen
6	chr12:118619600-118631000	Weak transcription	Fetal Thymus	thymus
7	chr12:118619600-118632800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:118619600-118635800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:118620200-118635200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:118620200-118636800	Weak transcription	Hela-S3	cervix
11	chr12:118620200-118656400	Weak transcription	HepG2	liver
12	chr12:118621000-118682600	Weak transcription	A549	lung
13	chr12:118621400-118633400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr12:118621400-118635800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:118622400-118643800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:118622400-118643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:118622400-118646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:118622600-118642000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:118623600-118642600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:118624400-118635400	Weak transcription	Small Intestine	intestine
21	chr12:118625600-118641600	Weak transcription	Stomach Mucosa	stomach
22	chr12:118626200-118631400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:118626200-118631400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:118627000-118634000	Weak transcription	Liver	Liver
25	chr12:118627000-118636400	Weak transcription	K562	blood
26	chr12:118628000-118632600	Weak transcription	Lung	lung
27	chr12:118628000-118634600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:118628000-118635200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:118628000-118636600	Weak transcription	Colonic Mucosa	Colon
30	chr12:118628000-118636800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:118628000-118636800	Weak transcription	Esophagus	oesophagus
32	chr12:118628400-118630800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:118628400-118631000	Weak transcription	Primary B cells from cord blood	blood
34	chr12:118628400-118631000	Weak transcription	Left Ventricle	heart
35	chr12:118628400-118631200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:118628400-118631200	Weak transcription	Dnd41	blood
37	chr12:118628400-118631400	Weak transcription	Placenta	Placenta
38	chr12:118628400-118631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:118628400-118633200	Weak transcription	Thymus	Thymus
40	chr12:118628400-118635400	Weak transcription	Fetal Intestine Small	intestine
41	chr12:118628400-118636600	Weak transcription	Pancreas	Pancrea
42	chr12:118628400-118637400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:118628400-118638200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
45	chr12:118628600-118631000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:118628600-118631200	Weak transcription	Primary T cells from cord blood	blood
47	chr12:118628600-118631200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:118628600-118631200	Weak transcription	HMEC	breast
49	chr12:118628600-118631400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:118628600-118631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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