Variant report

Variant	rs12941974
Chromosome Location	chr17:38544725-38544726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38522230..38526031-chr17:38544270..38547850,3	K562	blood:
2	chr17:38544588..38548116-chr17:38554882..38558246,4	K562	blood:
3	chr17:38543498..38545581-chr17:38709876..38712151,2	MCF-7	breast:
4	chr17:38518040..38522193-chr17:38542371..38546026,3	K562	blood:
5	chr17:38544691..38546816-chr17:38554704..38556382,2	K562	blood:

Variant related genes	Relation type
ENSG00000131747	Chromatin interaction
ENSG00000264655	Chromatin interaction
ENSG00000183153	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12938382	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs12946096	0.82[AFR][1000 genomes]
rs35780567	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs6413494	1.00[ASW][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38523800-38546200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:38531600-38545000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr17:38533600-38549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:38535200-38546400	Weak transcription	Thymus	Thymus
5	chr17:38536800-38562000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:38537200-38558600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:38538200-38557400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:38538400-38559200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:38538600-38545200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:38539200-38544800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr17:38539400-38565800	Weak transcription	Placenta	Placenta
12	chr17:38539800-38546200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:38540000-38546200	Weak transcription	Fetal Stomach	stomach
14	chr17:38540200-38549000	Weak transcription	Fetal Muscle Leg	muscle
15	chr17:38540200-38553000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:38540200-38571400	Strong transcription	Fetal Thymus	thymus
17	chr17:38540400-38553000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:38541400-38549600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:38541400-38551000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:38541800-38559000	Strong transcription	A549	lung
21	chr17:38542000-38555000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:38542000-38556800	Weak transcription	Fetal Lung	lung
23	chr17:38542200-38571600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:38542400-38549200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:38542400-38551200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr17:38542400-38560400	Strong transcription	Dnd41	blood
27	chr17:38542600-38547000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:38542600-38566000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:38542600-38566400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr17:38542600-38571800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:38543000-38557000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr17:38543000-38566000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr17:38543200-38545400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr17:38543200-38545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr17:38543200-38553400	Strong transcription	HMEC	breast
36	chr17:38543200-38559000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:38543200-38571000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:38543400-38545000	Weak transcription	Fetal Intestine Large	intestine
39	chr17:38543400-38571000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:38543400-38571400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:38543400-38571800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr17:38543600-38551200	Strong transcription	NHEK	skin
43	chr17:38543800-38546200	Weak transcription	NHLF	lung
44	chr17:38543800-38551400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:38543800-38555200	Strong transcription	HUVEC	blood vessel
46	chr17:38543800-38566000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr17:38543800-38566400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:38543800-38566400	Weak transcription	Fetal Heart	heart
49	chr17:38544000-38549800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:38544000-38553400	Strong transcription	Fetal Muscle Trunk	muscle

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