Variant report

Variant	rs13207331
Chromosome Location	chr6:144848068-144848069
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144846785..144849151-chr6:144850372..144853303,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1005974	0.85[ASN][1000 genomes]
rs12204372	0.85[ASN][1000 genomes]
rs12214126	0.83[ASN][1000 genomes]
rs13198102	0.81[ASN][1000 genomes]
rs13203387	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13205040	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1534437	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1554814	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17793810	0.81[AFR][1000 genomes]
rs34095417	0.90[ASN][1000 genomes]
rs35866755	0.84[ASN][1000 genomes]
rs35904953	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3811099	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4075776	0.89[ASN][1000 genomes]
rs4146297	0.84[ASN][1000 genomes]
rs4401687	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56158631	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs66905872	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73001731	0.81[ASN][1000 genomes]
rs7740593	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144795800-144849800	Weak transcription	HMEC	breast
2	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
4	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
5	chr6:144812600-144849600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:144812600-144849600	Weak transcription	NH-A	brain
7	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:144813400-144850000	Weak transcription	Colonic Mucosa	Colon
9	chr6:144815000-144855400	Weak transcription	Psoas Muscle	Psoas
10	chr6:144815200-144881000	Weak transcription	NHEK	skin
11	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:144821200-144850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:144821200-144861000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:144827200-144857200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr6:144829000-144849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:144829200-144849600	Weak transcription	Right Ventricle	heart
17	chr6:144829200-144849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:144829600-144849800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:144829800-144849200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:144829800-144849600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:144829800-144849600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:144829800-144849600	Weak transcription	Spleen	Spleen
23	chr6:144829800-144849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:144829800-144850000	Weak transcription	Esophagus	oesophagus
25	chr6:144829800-144854200	Weak transcription	Gastric	stomach
26	chr6:144829800-144863800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:144831400-144849200	Weak transcription	Fetal Heart	heart
28	chr6:144831400-144879000	Strong transcription	Primary B cells from cord blood	blood
29	chr6:144831600-144853200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr6:144831800-144857000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr6:144832200-144856800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr6:144832400-144862200	Weak transcription	Small Intestine	intestine
33	chr6:144833400-144849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:144833800-144857000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:144833800-144857200	Strong transcription	Primary T cells from cord blood	blood
36	chr6:144833800-144868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:144834600-144849600	Weak transcription	NHLF	lung
38	chr6:144834800-144848400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:144835000-144856400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:144835800-144849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:144836000-144849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:144836200-144849600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:144836400-144849600	Weak transcription	Thymus	Thymus
44	chr6:144836600-144849200	Weak transcription	Fetal Stomach	stomach
45	chr6:144836600-144849200	Weak transcription	Lung	lung
46	chr6:144836600-144850000	Weak transcription	Pancreas	Pancrea
47	chr6:144836800-144849800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:144837200-144849200	Weak transcription	Fetal Intestine Small	intestine
49	chr6:144837200-144849400	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:144837200-144880800	Weak transcription	Brain Angular Gyrus	brain

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