Variant report

Variant	rs11966587
Chromosome Location	chr6:44090112-44090113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44088513..44090682-chr6:44214026..44216491,3	K562	blood:
2	chr6:44066604..44068973-chr6:44089400..44092003,2	MCF-7	breast:
3	chr6:44088008..44090239-chr6:44222816..44224474,2	MCF-7	breast:
4	chr6:44088681..44090812-chr6:44355955..44357719,2	K562	blood:
5	chr6:44089402..44092816-chr6:44223805..44226741,4	K562	blood:
6	chr6:43736948..43738538-chr6:44089022..44091382,2	K562	blood:
7	chr6:44050736..44053615-chr6:44088297..44091106,2	K562	blood:
8	chr6:44088020..44090654-chr6:44213530..44217195,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157593	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000112715	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10428726	0.96[ASN][1000 genomes]
rs10807295	0.96[ASN][1000 genomes]
rs10948122	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948123	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948125	0.96[ASN][1000 genomes]
rs10948126	0.96[ASN][1000 genomes]
rs11967633	0.96[ASN][1000 genomes]
rs11968386	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525049	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12526662	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664793	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096200	0.96[ASN][1000 genomes]
rs35738079	0.90[ASN][1000 genomes]
rs41282654	0.93[ASN][1000 genomes]
rs4711765	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714744	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714749	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862642	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59028814	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60245793	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691447	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912142	0.90[ASN][1000 genomes]
rs700006	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713050	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73733834	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7738970	0.96[ASN][1000 genomes]
rs7771710	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:44081800-44093600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:44082000-44090800	Weak transcription	Spleen	Spleen
5	chr6:44082200-44093600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:44082400-44090400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:44083200-44093800	Weak transcription	Fetal Brain Male	brain
8	chr6:44083400-44090400	Weak transcription	Fetal Kidney	kidney
9	chr6:44083600-44090400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:44083600-44090800	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:44083600-44092600	Enhancers	HMEC	breast
12	chr6:44083800-44090400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:44083800-44093800	Enhancers	Stomach Mucosa	stomach
14	chr6:44084000-44093800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:44084400-44090400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:44085000-44090400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:44085200-44092800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:44085800-44093800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:44086400-44090200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:44086400-44090400	Weak transcription	Dnd41	blood
21	chr6:44086600-44090400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:44086600-44090400	Weak transcription	Fetal Stomach	stomach
23	chr6:44086600-44090400	Weak transcription	Thymus	Thymus
24	chr6:44086600-44092000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:44087000-44093600	Enhancers	Liver	Liver
26	chr6:44087200-44090400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:44087200-44090400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:44087200-44092000	Enhancers	Fetal Lung	lung
29	chr6:44087200-44093600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr6:44087400-44090600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:44087400-44090600	Enhancers	NHLF	lung
32	chr6:44087400-44093800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:44087400-44094200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:44087600-44090200	Enhancers	Right Ventricle	heart
35	chr6:44087600-44090400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:44087800-44093000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:44087800-44093800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr6:44087800-44094000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr6:44088000-44090200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:44088000-44090400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:44088000-44090400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr6:44088000-44090800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:44088000-44090800	Weak transcription	Right Atrium	heart
44	chr6:44088000-44093400	Weak transcription	Brain Angular Gyrus	brain
45	chr6:44088000-44094000	Weak transcription	Aorta	Aorta
46	chr6:44088000-44094000	Weak transcription	Esophagus	oesophagus
47	chr6:44088200-44090200	Enhancers	GM12878-XiMat	blood
48	chr6:44088200-44090400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:44088200-44090600	Genic enhancers	HepG2	liver
50	chr6:44088200-44090600	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links