Variant report

Variant	rs11168252
Chromosome Location	chr12:48210318-48210319
allele	A/T
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	chr12:48210206-48210381	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:48210061-48213217	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:48210172-48211556	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr12:48210009-48211562	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:48210133-48210474	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48208028..48210618-chr17:57914996..57917527,2	MCF-7	breast:
2	chr12:48200947..48203542-chr12:48208832..48210426,2	K562	blood:
3	chr12:48186144..48189155-chr12:48210267..48212702,3	MCF-7	breast:

Variant related genes	Relation type
HDAC7	TF binding region
ENSG00000061273	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11168244	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11168245	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11168250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11168251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55726902	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56389811	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73107980	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73107993	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs875023	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 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	chr12:48205400-48211800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:48207400-48211400	Weak transcription	Fetal Brain Male	brain
3	chr12:48207600-48210600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:48207600-48210800	Weak transcription	HepG2	liver
5	chr12:48207600-48211800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:48207800-48210600	Enhancers	Left Ventricle	heart
7	chr12:48208000-48210400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:48208000-48211000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:48208000-48211200	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:48208200-48210400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:48208200-48210400	Weak transcription	Brain Germinal Matrix	brain
12	chr12:48208200-48210600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:48208200-48210600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:48208200-48210800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:48208200-48210800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:48208200-48211200	Enhancers	Primary B cells from cord blood	blood
17	chr12:48208200-48211800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:48208600-48210600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:48208600-48210600	Weak transcription	Fetal Intestine Small	intestine
20	chr12:48208600-48210800	Weak transcription	HSMMtube	muscle
21	chr12:48208600-48212400	Weak transcription	Ovary	ovary
22	chr12:48208800-48210600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:48208800-48210600	Weak transcription	Colonic Mucosa	Colon
24	chr12:48208800-48210600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:48208800-48210600	Enhancers	Spleen	Spleen
26	chr12:48209000-48210600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:48209000-48210600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:48209000-48210600	Enhancers	Primary hematopoietic stem cells	blood
29	chr12:48209000-48210600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr12:48209000-48210600	Weak transcription	Gastric	stomach
31	chr12:48209000-48210600	Enhancers	Lung	lung
32	chr12:48209000-48210600	Enhancers	A549	lung
33	chr12:48209000-48210800	Weak transcription	Fetal Intestine Large	intestine
34	chr12:48209200-48210600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:48209200-48210600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:48209200-48210600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:48209200-48210600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:48209200-48210600	Enhancers	Fetal Muscle Leg	muscle
39	chr12:48209200-48210600	Weak transcription	Psoas Muscle	Psoas
40	chr12:48209200-48210600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:48209200-48210800	Weak transcription	Brain Substantia Nigra	brain
42	chr12:48209200-48210800	Weak transcription	NHEK	skin
43	chr12:48209200-48211000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:48209200-48211000	Enhancers	GM12878-XiMat	blood
45	chr12:48209200-48211200	Weak transcription	Liver	Liver
46	chr12:48209200-48211600	Weak transcription	Aorta	Aorta
47	chr12:48209400-48210400	Weak transcription	Osteobl	bone
48	chr12:48209400-48210600	Weak transcription	Small Intestine	intestine
49	chr12:48209800-48210600	Enhancers	NH-A	brain
50	chr12:48209800-48210800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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