Variant report

Variant	rs17461178
Chromosome Location	chr6:128823209-128823210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1012629	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756545	1.00[ASN][1000 genomes]
rs17459694	0.94[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17460765	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17460940	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461290	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1935130	0.94[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55848328	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62425728	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425730	1.00[ASN][1000 genomes]
rs62425732	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9482886	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9491959	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128808800-128830800	Weak transcription	Lung	lung
2	chr6:128813000-128828600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:128813400-128825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:128814000-128825200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:128814200-128824800	Weak transcription	Right Ventricle	heart
6	chr6:128815200-128833800	Enhancers	Fetal Intestine Large	intestine
7	chr6:128816400-128825600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:128816800-128826600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:128817200-128828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:128817200-128839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:128817200-128839800	Weak transcription	Aorta	Aorta
12	chr6:128819200-128823400	Enhancers	Fetal Lung	lung
13	chr6:128819600-128824000	Weak transcription	Pancreas	Pancrea
14	chr6:128819600-128824600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:128819600-128825200	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:128819600-128827600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:128819800-128824800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:128819800-128824800	Weak transcription	Ovary	ovary
19	chr6:128819800-128825200	Weak transcription	Small Intestine	intestine
20	chr6:128819800-128825400	Weak transcription	Psoas Muscle	Psoas
21	chr6:128819800-128825600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:128819800-128825600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:128819800-128825600	Weak transcription	Right Atrium	heart
24	chr6:128819800-128826600	Weak transcription	Brain Angular Gyrus	brain
25	chr6:128819800-128828600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:128819800-128828600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:128820400-128825600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:128820600-128826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:128820600-128833800	Enhancers	Fetal Intestine Small	intestine
30	chr6:128820800-128828400	Weak transcription	HSMMtube	muscle
31	chr6:128820800-128828600	Weak transcription	HSMM	muscle
32	chr6:128821000-128824800	Enhancers	Liver	Liver
33	chr6:128821000-128825400	Weak transcription	Fetal Kidney	kidney
34	chr6:128821200-128823600	Enhancers	A549	lung
35	chr6:128821200-128825400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:128821200-128826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:128821400-128824000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:128821400-128825000	Weak transcription	Brain Anterior Caudate	brain
39	chr6:128821400-128825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:128821400-128825600	Enhancers	HepG2	liver
41	chr6:128821600-128824600	Weak transcription	Brain Substantia Nigra	brain
42	chr6:128821600-128825600	Weak transcription	NH-A	brain
43	chr6:128821600-128826000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr6:128821600-128836800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:128821800-128825400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:128821800-128825600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:128821800-128825600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:128821800-128827000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:128821800-128827200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:128822000-128827000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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