Variant report

Variant	rs12207916
Chromosome Location	chr6:36617652-36617653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36609340..36611035-chr6:36617549..36619389,2	K562	blood:
2	chr6:36597486..36599707-chr6:36615187..36618681,3	MCF-7	breast:
3	chr6:36611974..36613639-chr6:36617338..36618875,2	K562	blood:
4	chr6:36605328..36606866-chr6:36616080..36618764,2	K562	blood:
5	chr6:36615853..36625488-chr6:36645022..36649146,15	MCF-7	breast:
6	chr6:36615767..36617773-chr6:36645679..36648861,3	MCF-7	breast:
7	chr6:36617326..36619244-chr6:36622904..36626084,3	K562	blood:

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12199346	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1321310	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1321311	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1321313	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3176326	0.81[JPT][hapmap]
rs4331968	0.80[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs56100429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66761782	0.88[ASN][1000 genomes]
rs7742159	0.95[ASN][1000 genomes]
rs7756236	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9462207	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9462210	0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9470358	0.95[ASN][1000 genomes]
rs9470361	0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs9470366	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9918353	0.95[ASN][1000 genomes]

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	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	103 gene(s)	inside rSNPs	diseases
2	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36611600-36628600	Weak transcription	Right Atrium	heart
2	chr6:36613200-36618600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:36613200-36619600	Weak transcription	Placenta	Placenta
4	chr6:36613400-36625000	Weak transcription	Fetal Kidney	kidney
5	chr6:36613600-36618000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:36615800-36617800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:36616600-36618200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:36616800-36618000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:36616800-36618800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:36616800-36619400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:36616800-36619400	Enhancers	Adipose Nuclei	Adipose
12	chr6:36617000-36617800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:36617000-36618000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:36617000-36618000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:36617000-36618000	Enhancers	Osteobl	bone
16	chr6:36617000-36618200	Enhancers	HSMM	muscle
17	chr6:36617000-36618600	Enhancers	GM12878-XiMat	blood
18	chr6:36617000-36618800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:36617000-36618800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:36617000-36618800	Enhancers	HSMMtube	muscle
21	chr6:36617000-36619200	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:36617000-36619200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:36617000-36619200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:36617000-36619800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:36617200-36617800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr6:36617200-36618200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:36617200-36620200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr6:36617200-36620400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:36617400-36617800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:36617400-36617800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:36617400-36617800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:36617400-36617800	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr6:36617400-36618000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:36617400-36618000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:36617400-36618000	Enhancers	Fetal Muscle Leg	muscle
36	chr6:36617400-36618200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:36617400-36618200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:36617400-36618200	Enhancers	Colonic Mucosa	Colon
39	chr6:36617400-36618200	Enhancers	Spleen	Spleen
40	chr6:36617400-36618200	Enhancers	HMEC	breast
41	chr6:36617400-36618600	Enhancers	Fetal Muscle Trunk	muscle
42	chr6:36617400-36618800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:36617400-36619200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr6:36617400-36619200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr6:36617400-36619400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:36617400-36619400	Bivalent Enhancer	K562	blood
47	chr6:36617400-36619600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr6:36617400-36620400	Enhancers	Primary B cells from cord blood	blood
49	chr6:36617400-36620400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:36617400-36620600	Enhancers	Duodenum Mucosa	Duodenum

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