Variant report

Variant	rs12208304
Chromosome Location	chr6:114269542-114269543
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114267925..114269715-chr6:114290279..114292790,2	K562	blood:
2	chr6:114267467..114269651-chr6:114272687..114274488,2	K562	blood:

Variant related genes	Relation type
ENSG00000196591	Chromatin interaction
ENSG00000228624	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1407459	0.82[CHB][hapmap]
rs2475631	0.82[CHB][hapmap]
rs352063	0.82[CHB][hapmap]
rs9320475	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9400685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12208304	WISP3	cis	parietal	SCAN
rs12208304	HDAC2	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114253000-114289800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:114253400-114290600	Weak transcription	Aorta	Aorta
3	chr6:114254000-114271400	Weak transcription	Stomach Mucosa	stomach
4	chr6:114254600-114281800	Strong transcription	Dnd41	blood
5	chr6:114255400-114281600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:114255600-114276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:114256600-114270000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:114258400-114274200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:114258400-114279600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:114258600-114270200	Strong transcription	Liver	Liver
11	chr6:114258600-114282600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:114258600-114291000	Weak transcription	Lung	lung
13	chr6:114258800-114270600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:114258800-114279600	Strong transcription	Fetal Intestine Large	intestine
15	chr6:114258800-114281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:114258800-114281600	Weak transcription	Gastric	stomach
17	chr6:114258800-114285600	Weak transcription	Right Ventricle	heart
18	chr6:114258800-114289800	Weak transcription	Spleen	Spleen
19	chr6:114259000-114289200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:114259400-114269600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:114259400-114279800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr6:114259400-114281400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:114259600-114279600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr6:114259600-114281000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:114259800-114274200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:114259800-114274400	Strong transcription	HSMM	muscle
27	chr6:114259800-114280000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:114259800-114280600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:114259800-114280600	Strong transcription	Fetal Thymus	thymus
30	chr6:114259800-114280800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:114259800-114280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:114259800-114281000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:114260000-114270200	Strong transcription	NH-A	brain
34	chr6:114260000-114274400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:114260000-114280400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr6:114260200-114270200	Strong transcription	HepG2	liver
37	chr6:114260200-114270400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:114260200-114270600	Strong transcription	HUVEC	blood vessel
39	chr6:114260200-114274800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:114260200-114275400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:114260200-114279600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr6:114260600-114271000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:114264800-114289800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:114265200-114280800	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:114265600-114282000	Weak transcription	Brain Substantia Nigra	brain
46	chr6:114265800-114272200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:114266000-114272800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:114266000-114283800	Weak transcription	Colonic Mucosa	Colon
49	chr6:114266000-114289600	Weak transcription	Esophagus	oesophagus
50	chr6:114266200-114270000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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