Variant report

Variant	rs41439546
Chromosome Location	chr6:128411972-128411973
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	chr6:128405823..128408102-chr6:128411407..128413880,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10485162	1.00[CHD][hapmap]
rs10499137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499138	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10872329	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs11961776	1.00[JPT][hapmap]
rs11962214	1.00[JPT][hapmap]
rs11962916	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11965115	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs11967302	0.92[EUR][1000 genomes]
rs11968433	1.00[CHD][hapmap]
rs11970637	1.00[CHB][hapmap]
rs12110357	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs12110728	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs17055270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17055274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17055283	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055287	0.82[CEU][hapmap]
rs17055290	0.95[ASN][1000 genomes]
rs17055300	0.91[ASN][1000 genomes]
rs17055360	0.91[ASN][1000 genomes]
rs17055365	0.91[ASN][1000 genomes]
rs17055391	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs17055403	0.91[ASN][1000 genomes]
rs17055412	0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17055415	0.91[ASN][1000 genomes]
rs17055421	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17055443	0.86[ASN][1000 genomes]
rs17055445	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4072328	0.82[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs4364497	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs4440487	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4496822	1.00[JPT][hapmap]
rs4498385	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4895830	0.82[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs4897244	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4897245	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4897246	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4897247	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4897248	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4897249	0.91[ASN][1000 genomes]
rs4897250	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs59636446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900798	0.85[CHD][hapmap]
rs6904354	0.92[EUR][1000 genomes]
rs6909380	0.91[ASN][1000 genomes]
rs6913738	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6918772	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6929394	0.91[ASN][1000 genomes]
rs6929623	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6935188	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs6938199	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs73584655	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73584673	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73586607	0.92[EUR][1000 genomes]
rs73586609	0.92[EUR][1000 genomes]
rs73586611	0.92[EUR][1000 genomes]
rs73586613	0.92[EUR][1000 genomes]
rs73588647	0.87[EUR][1000 genomes]
rs73588698	0.86[ASN][1000 genomes]
rs7746783	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs7751187	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7754321	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7768121	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7769070	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7772200	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9375548	0.82[CEU][hapmap];1.00[GIH][hapmap]
rs9491913	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv604643	chr6:128359362-128493991	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv604644	chr6:128394889-128486139	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv516794	chr6:128403745-128430506	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv886650	chr6:128403745-128513395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
2	chr6:128370000-128412600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:128372400-128412200	Weak transcription	Placenta	Placenta
4	chr6:128374600-128419400	Weak transcription	Esophagus	oesophagus
5	chr6:128375000-128419400	Weak transcription	Gastric	stomach
6	chr6:128375000-128433800	Weak transcription	Aorta	Aorta
7	chr6:128375600-128413000	Weak transcription	Colonic Mucosa	Colon
8	chr6:128379000-128432800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:128379400-128412200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:128385800-128419400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:128388600-128412800	Weak transcription	Fetal Lung	lung
12	chr6:128389000-128412800	Weak transcription	NHLF	lung
13	chr6:128389000-128419400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:128389000-128419400	Weak transcription	Pancreas	Pancrea
15	chr6:128389600-128417600	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:128389600-128418200	Weak transcription	Brain Substantia Nigra	brain
17	chr6:128389600-128419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:128390200-128412600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:128390800-128415000	Weak transcription	NHDF-Ad	bronchial
20	chr6:128390800-128419600	Weak transcription	NH-A	brain
21	chr6:128395400-128417400	Weak transcription	Fetal Heart	heart
22	chr6:128398600-128412600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:128398800-128419400	Weak transcription	HMEC	breast
24	chr6:128399000-128418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:128399000-128422600	Weak transcription	HUVEC	blood vessel
26	chr6:128399200-128419200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:128399400-128417600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:128401400-128419400	Weak transcription	Small Intestine	intestine
29	chr6:128401400-128431800	Weak transcription	Right Ventricle	heart
30	chr6:128401600-128419600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:128401800-128433600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:128403800-128417400	Weak transcription	Fetal Kidney	kidney
33	chr6:128403800-128419400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:128403800-128420800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:128403800-128421600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:128404000-128412600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:128404000-128415400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:128404000-128419200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:128404000-128438000	Weak transcription	Fetal Thymus	thymus
40	chr6:128404400-128422000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:128404600-128417600	Weak transcription	Liver	Liver
42	chr6:128405000-128431400	Weak transcription	Primary B cells from cord blood	blood
43	chr6:128406600-128433000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:128408000-128415400	Weak transcription	Spleen	Spleen
45	chr6:128410400-128421200	Weak transcription	NHEK	skin
46	chr6:128411000-128417800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:128411000-128419400	Weak transcription	Osteobl	bone
48	chr6:128411000-128433600	Weak transcription	HSMMtube	muscle
49	chr6:128411200-128412800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:128411200-128417200	Weak transcription	Primary B cells from peripheral blood	blood

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