Variant report

Variant	rs12103467
Chromosome Location	chr17:17920640-17920641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17917861..17921219-chr17:17923082..17926413,4	MCF-7	breast:
2	chr17:17874348..17876839-chr17:17919223..17921687,3	MCF-7	breast:
3	chr17:17919283..17922908-chr17:17926461..17929457,3	MCF-7	breast:
4	chr17:17862068..17864247-chr17:17920518..17922491,2	K562	blood:
5	chr17:17919375..17921668-chr17:17930034..17932922,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175662	Chromatin interaction
ENSG00000171953	Chromatin interaction
ENSG00000171962	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12603505	1.00[CHD][hapmap]
rs16960959	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs2229590	1.00[CEU][hapmap]
rs28615278	1.00[CHD][hapmap]
rs8072048	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers 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 miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17906200-17941400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:17906600-17929000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:17908200-17921800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr17:17908400-17928400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:17908600-17932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:17908800-17941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr17:17909600-17920800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:17910200-17926400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr17:17910400-17923200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr17:17910400-17924400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:17910800-17925800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:17910800-17929200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:17911000-17930600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:17911400-17923800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:17911600-17923200	Weak transcription	Hela-S3	cervix
16	chr17:17912000-17928800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr17:17912000-17930800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:17912400-17928400	Weak transcription	NHDF-Ad	bronchial
19	chr17:17912800-17920800	Weak transcription	Osteobl	bone
20	chr17:17913000-17924600	Weak transcription	NHLF	lung
21	chr17:17913000-17928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:17913000-17928200	Weak transcription	HMEC	breast
23	chr17:17913200-17928600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr17:17913400-17924400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr17:17913600-17920800	Weak transcription	Right Atrium	heart
26	chr17:17915000-17929000	Weak transcription	A549	lung
27	chr17:17915200-17920800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:17915200-17922400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:17916400-17936600	Weak transcription	Fetal Kidney	kidney
30	chr17:17917400-17922600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:17917400-17925600	Strong transcription	Fetal Intestine Large	intestine
32	chr17:17917400-17926000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:17917400-17928400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr17:17917400-17936600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:17917600-17926600	Strong transcription	Fetal Stomach	stomach
36	chr17:17917800-17922200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:17917800-17929200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:17918000-17921000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr17:17918000-17922800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr17:17918000-17925200	Strong transcription	Placenta	Placenta
41	chr17:17918000-17925400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr17:17918000-17925600	Strong transcription	Primary T cells from cord blood	blood
43	chr17:17918000-17925800	Strong transcription	NHEK	skin
44	chr17:17918000-17928200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr17:17918000-17929400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:17918000-17932200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:17918000-17932600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr17:17918400-17923200	Weak transcription	GM12878-XiMat	blood
49	chr17:17918600-17920800	Weak transcription	K562	blood
50	chr17:17918600-17921000	Strong transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links