Variant report

Variant	rs7774703
Chromosome Location	chr6:128387951-128387952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10046118	0.90[CEU][hapmap]
rs10046119	0.88[CEU][hapmap]
rs17055223	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs17055231	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs17055242	1.00[ASN][1000 genomes]
rs1883810	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs35335036	0.90[EUR][1000 genomes]
rs4345415	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4475344	0.94[CEU][hapmap]
rs4479962	1.00[ASN][1000 genomes]
rs4544930	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4598101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895829	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4897239	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4897240	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4897241	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs4897242	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4897243	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6569520	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs6569521	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6569522	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6569523	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6913095	0.84[CEU][hapmap]
rs6913595	0.92[EUR][1000 genomes]
rs6928445	0.90[CEU][hapmap]
rs6928496	0.90[CEU][hapmap]
rs6928512	0.90[CEU][hapmap]
rs6938574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739912	1.00[CHB][hapmap]
rs7756639	0.92[EUR][1000 genomes]
rs7757761	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7758689	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7769691	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9321106	0.90[CEU][hapmap]
rs9321107	0.90[CEU][hapmap]
rs9321108	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9321109	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9321110	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9375546	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9402016	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9482857	0.87[EUR][1000 genomes]
rs9482858	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs9482859	0.89[CEU][hapmap]
rs9482860	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs9482861	0.90[CEU][hapmap]
rs9482862	0.90[CEU][hapmap]
rs9482863	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs9482864	0.90[CEU][hapmap]
rs9482865	0.90[CEU][hapmap]
rs9482866	0.90[CEU][hapmap]
rs9482868	0.89[CEU][hapmap]
rs9482871	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9482872	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9491904	0.90[CEU][hapmap]
rs9491906	0.90[CEU][hapmap]
rs970363	0.90[CEU][hapmap]
rs970364	0.94[CEU][hapmap];0.91[EUR][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	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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
2	chr6:128320800-128388200	Weak transcription	NHEK	skin
3	chr6:128326600-128388200	Weak transcription	HMEC	breast
4	chr6:128342600-128388600	Weak transcription	Fetal Brain Female	brain
5	chr6:128347000-128405200	Weak transcription	Lung	lung
6	chr6:128350000-128401000	Weak transcription	Small Intestine	intestine
7	chr6:128353200-128388400	Weak transcription	NHLF	lung
8	chr6:128361200-128388000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:128367600-128398000	Weak transcription	HUVEC	blood vessel
10	chr6:128368400-128388000	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:128369800-128388000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:128370000-128388000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:128370000-128412600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:128370800-128388000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:128372400-128412200	Weak transcription	Placenta	Placenta
16	chr6:128373400-128388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:128373600-128388400	Weak transcription	Fetal Brain Male	brain
18	chr6:128373800-128388000	Weak transcription	Thymus	Thymus
19	chr6:128374600-128419400	Weak transcription	Esophagus	oesophagus
20	chr6:128375000-128388400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:128375000-128419400	Weak transcription	Gastric	stomach
22	chr6:128375000-128433800	Weak transcription	Aorta	Aorta
23	chr6:128375600-128413000	Weak transcription	Colonic Mucosa	Colon
24	chr6:128377400-128388200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:128377600-128388400	Weak transcription	Adipose Nuclei	Adipose
26	chr6:128377800-128403400	Weak transcription	Fetal Kidney	kidney
27	chr6:128378000-128390200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:128378800-128388000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:128379000-128388000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:128379000-128432800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:128379400-128388000	Weak transcription	HSMMtube	muscle
32	chr6:128379400-128388600	Weak transcription	Left Ventricle	heart
33	chr6:128379400-128390400	Weak transcription	NHDF-Ad	bronchial
34	chr6:128379400-128396600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr6:128379400-128412200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:128379600-128390000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:128379800-128388000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:128379800-128389200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr6:128380400-128388200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:128381000-128388200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:128381800-128389200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:128383000-128389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:128384000-128389600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr6:128384000-128396000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:128384200-128388000	Enhancers	Brain Hippocampus Middle	brain
46	chr6:128384400-128388000	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:128384400-128388000	Enhancers	Brain Substantia Nigra	brain
48	chr6:128385000-128388600	Strong transcription	Primary B cells from cord blood	blood
49	chr6:128385000-128390800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:128385200-128388800	Enhancers	Brain Angular Gyrus	brain

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