Variant report

Variant	rs4775997
Chromosome Location	chr15:52346928-52346929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52344231..52347096-chr15:52361163..52363365,2	K562	blood:
2	chr15:52309859..52315433-chr15:52338782..52357079,28	MCF-7	breast:
3	chr15:52343651..52347096-chr15:52360408..52363365,3	K562	blood:
4	chr15:52310181..52316125-chr15:52344513..52354209,17	MCF-7	breast:
5	chr15:52346904..52348485-chr15:52369068..52371304,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259438	Chromatin interaction
ENSG00000069956	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10518675	1.00[CHB][hapmap]
rs16964694	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap]
rs16964700	1.00[CHB][hapmap]
rs16964720	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs17540338	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs2246726	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs2470593	1.00[CHB][hapmap]
rs2470595	1.00[CHB][hapmap]
rs2554321	1.00[GIH][hapmap]
rs2554341	1.00[GIH][hapmap]
rs2593189	1.00[GIH][hapmap]
rs2899484	1.00[CHB][hapmap]
rs4491448	0.88[CHB][hapmap]
rs4775995	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs4775996	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7177328	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs732097	0.89[CHB][hapmap]
rs7497554	1.00[CHB][hapmap];0.91[YRI][hapmap]
rs751560	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
2	chr15:52332400-52348200	Weak transcription	Colonic Mucosa	Colon
3	chr15:52332600-52349000	Weak transcription	Esophagus	oesophagus
4	chr15:52332600-52349400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:52332600-52350800	Weak transcription	Aorta	Aorta
6	chr15:52332600-52361800	Weak transcription	Gastric	stomach
7	chr15:52333000-52348200	Weak transcription	HSMMtube	muscle
8	chr15:52333000-52350800	Weak transcription	Right Ventricle	heart
9	chr15:52333000-52351000	Weak transcription	Spleen	Spleen
10	chr15:52333200-52348600	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:52334000-52361400	Weak transcription	Small Intestine	intestine
12	chr15:52334600-52357200	Weak transcription	Fetal Heart	heart
13	chr15:52334800-52350200	Weak transcription	Psoas Muscle	Psoas
14	chr15:52335000-52348000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:52335400-52350800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:52335400-52350800	Weak transcription	Pancreas	Pancrea
17	chr15:52337600-52360600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:52337800-52357000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:52338200-52347400	Weak transcription	Stomach Mucosa	stomach
20	chr15:52338200-52351000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr15:52338400-52347400	Weak transcription	Brain Angular Gyrus	brain
22	chr15:52338800-52347000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:52339000-52349000	Strong transcription	Fetal Intestine Small	intestine
24	chr15:52339200-52348800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:52339200-52351000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:52339200-52351200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:52339200-52351600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:52339400-52359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:52339600-52357000	Strong transcription	Fetal Intestine Large	intestine
30	chr15:52339800-52347000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:52340200-52362200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr15:52340400-52349800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr15:52341600-52357600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:52341800-52347600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:52341800-52358000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:52342400-52347000	Strong transcription	Dnd41	blood
37	chr15:52343000-52349800	Strong transcription	Fetal Muscle Leg	muscle
38	chr15:52343000-52359400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:52343200-52348600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr15:52343200-52350000	Strong transcription	Fetal Stomach	stomach
41	chr15:52343200-52352000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:52343200-52352000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:52344200-52347000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:52344200-52348400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:52344200-52356600	Strong transcription	Primary T cells from cord blood	blood
46	chr15:52344400-52348800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr15:52344400-52357200	Strong transcription	Left Ventricle	heart
48	chr15:52344600-52347200	Weak transcription	Placenta	Placenta
49	chr15:52344600-52350800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:52344600-52362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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