Variant report

Variant	rs6912336
Chromosome Location	chr6:144630787-144630788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144622631..144624157-chr6:144629354..144630857,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17073629	0.82[ASW][hapmap]
rs2179337	0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs2179338	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2179339	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59084029	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60083419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60318438	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6912024	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585069	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585080	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585083	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585088	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585090	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585093	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585099	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73585102	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591120	0.85[AMR][1000 genomes]
rs7745952	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7761266	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3324488	chr6:144630309-144633007	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144608600-144631400	Weak transcription	Colonic Mucosa	Colon
2	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:144616400-144648000	Weak transcription	NHEK	skin
4	chr6:144617200-144636400	Weak transcription	A549	lung
5	chr6:144617400-144632800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:144619200-144634600	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:144619800-144631800	Weak transcription	Fetal Heart	heart
8	chr6:144619800-144634600	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:144622400-144637000	Genic enhancers	HepG2	liver
10	chr6:144624200-144632000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:144624200-144641400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:144624200-144641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:144624400-144648000	Weak transcription	HMEC	breast
14	chr6:144625800-144632600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:144627000-144634600	Weak transcription	Small Intestine	intestine
16	chr6:144627400-144634600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:144627400-144641800	Weak transcription	Thymus	Thymus
18	chr6:144627600-144631600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:144627600-144631800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:144627600-144631800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:144627600-144631800	Weak transcription	Pancreas	Pancrea
22	chr6:144627600-144631800	Weak transcription	Psoas Muscle	Psoas
23	chr6:144627600-144634200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:144627600-144634200	Weak transcription	Right Atrium	heart
25	chr6:144627600-144634600	Weak transcription	Aorta	Aorta
26	chr6:144627600-144634600	Weak transcription	Esophagus	oesophagus
27	chr6:144627600-144634600	Weak transcription	Spleen	Spleen
28	chr6:144627600-144636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:144627600-144643400	Weak transcription	NH-A	brain
30	chr6:144627600-144645800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:144627800-144631400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:144627800-144631800	Weak transcription	GM12878-XiMat	blood
33	chr6:144627800-144632200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:144627800-144634600	Weak transcription	Fetal Thymus	thymus
35	chr6:144628200-144631400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:144628400-144631600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr6:144628600-144631000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr6:144628600-144631800	Strong transcription	Fetal Muscle Leg	muscle
39	chr6:144628800-144631000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:144629000-144631200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:144629000-144631200	Strong transcription	Fetal Stomach	stomach
42	chr6:144629000-144632800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:144629000-144633000	Strong transcription	HSMM	muscle
44	chr6:144629200-144631000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:144629200-144631200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:144629200-144631200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr6:144629200-144631400	Strong transcription	Fetal Kidney	kidney
48	chr6:144629200-144631400	Strong transcription	Lung	lung
49	chr6:144629200-144634400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:144629200-144634400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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