Variant report

Variant	rs12945419
Chromosome Location	chr17:33916512-33916513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33903370..33909494-chr17:33910892..33920548,27	MCF-7	breast:
2	chr17:33865496..33867936-chr17:33913565..33917669,3	K562	blood:

Variant related genes	Relation type
ENSG00000108733	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000267035	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11650225	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11650621	0.82[AFR][1000 genomes]
rs11653354	0.91[AFR][1000 genomes]
rs11655098	1.00[YRI][hapmap]
rs11656872	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12937370	1.00[AFR][1000 genomes]
rs12939138	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12939481	0.82[AFR][1000 genomes]
rs12939818	1.00[AFR][1000 genomes]
rs12940370	1.00[AFR][1000 genomes]
rs12940422	0.82[AFR][1000 genomes]
rs12940584	1.00[YRI][hapmap]
rs12941376	1.00[YRI][hapmap]
rs12943224	1.00[YRI][hapmap]
rs12945102	0.91[AFR][1000 genomes]
rs12949877	0.82[AFR][1000 genomes]
rs12950534	0.81[AFR][1000 genomes]
rs12951703	0.91[AFR][1000 genomes]
rs17606150	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17669281	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17670584	1.00[YRI][hapmap]
rs34063751	0.82[AFR][1000 genomes]
rs34528380	0.81[AFR][1000 genomes]
rs34937989	0.91[AFR][1000 genomes]
rs3506	1.00[YRI][hapmap]
rs35419374	0.81[AFR][1000 genomes]
rs35774966	0.81[AFR][1000 genomes]
rs35872249	0.81[AFR][1000 genomes]
rs61752107	0.90[AFR][1000 genomes]
rs71381461	0.83[AFR][1000 genomes]
rs71381463	0.83[AFR][1000 genomes]
rs71381464	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33913600-33916800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr17:33913800-33916600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr17:33913800-33916600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:33914000-33916600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:33914000-33918200	Active TSS	K562	blood
6	chr17:33914800-33916800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:33915000-33922000	Weak transcription	Spleen	Spleen
8	chr17:33915000-33923600	Weak transcription	Gastric	stomach
9	chr17:33915200-33916600	Enhancers	Fetal Heart	heart
10	chr17:33915200-33918000	Weak transcription	Lung	lung
11	chr17:33915200-33918200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:33915200-33921800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr17:33915200-33923400	Weak transcription	Colonic Mucosa	Colon
14	chr17:33915200-33923600	Weak transcription	Esophagus	oesophagus
15	chr17:33915200-33923600	Weak transcription	Pancreas	Pancrea
16	chr17:33915200-33930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:33915200-33932600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:33915400-33916600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:33915400-33916600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr17:33915400-33916800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:33915400-33916800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr17:33915400-33923600	Weak transcription	Aorta	Aorta
23	chr17:33915600-33916600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr17:33915600-33916600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:33915600-33916600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:33915600-33916600	Flanking Active TSS	NHDF-Ad	bronchial
27	chr17:33915600-33916800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr17:33915600-33916800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:33915600-33916800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr17:33915600-33916800	Enhancers	Liver	Liver
31	chr17:33915600-33916800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr17:33915600-33916800	Enhancers	Fetal Intestine Large	intestine
33	chr17:33915600-33916800	Enhancers	Fetal Intestine Small	intestine
34	chr17:33915600-33916800	Enhancers	Stomach Mucosa	stomach
35	chr17:33915600-33917400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr17:33915600-33919400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:33915600-33920600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr17:33915600-33920800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:33915600-33921000	Weak transcription	Placenta	Placenta
40	chr17:33915600-33921200	Weak transcription	Fetal Thymus	thymus
41	chr17:33915600-33921800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr17:33915600-33922200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:33915600-33923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
45	chr17:33915800-33916600	Enhancers	Primary B cells from cord blood	blood
46	chr17:33915800-33916600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr17:33915800-33916600	Weak transcription	Ovary	ovary
48	chr17:33915800-33916800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr17:33915800-33916800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr17:33915800-33916800	Enhancers	Primary T cells from cord blood	blood

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