Variant report

Variant	rs6896958
Chromosome Location	chr5:16746784-16746785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:16746681-16747764	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr5:16746147-16746985	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16743803..16745620-chr5:16745640..16748516,2	K562	blood:
2	chr5:16744561..16747041-chr5:16752220..16754067,2	K562	blood:

Variant related genes	Relation type
MYO10	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10037291	0.94[EUR][1000 genomes]
rs10043510	0.92[CEU][hapmap];0.95[GIH][hapmap];0.81[TSI][hapmap];0.95[EUR][1000 genomes]
rs10051558	0.93[EUR][1000 genomes]
rs10051930	0.92[CEU][hapmap];0.89[GIH][hapmap];0.81[TSI][hapmap];0.93[EUR][1000 genomes]
rs10057142	0.84[EUR][1000 genomes]
rs10077298	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13359146	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17429640	0.83[AMR][1000 genomes]
rs60500565	0.91[EUR][1000 genomes]
rs6873084	1.00[CEU][hapmap];0.88[ASN][1000 genomes]
rs7712627	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7712637	1.00[EUR][1000 genomes]
rs7729830	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7729861	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7729975	1.00[CEU][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7730280	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7730837	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9312925	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv520128	chr5:16737513-16746784	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
2	chr5:16736800-16756600	Weak transcription	Ovary	ovary
3	chr5:16736800-16758200	Weak transcription	Spleen	Spleen
4	chr5:16736800-16761200	Weak transcription	Hela-S3	cervix
5	chr5:16736800-16761800	Weak transcription	Colonic Mucosa	Colon
6	chr5:16736800-16762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:16738400-16748800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:16738600-16746800	Weak transcription	Fetal Intestine Large	intestine
10	chr5:16739200-16750600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:16739400-16758000	Weak transcription	Stomach Mucosa	stomach
12	chr5:16740400-16747200	Weak transcription	Fetal Intestine Small	intestine
13	chr5:16740400-16748200	Weak transcription	Right Ventricle	heart
14	chr5:16741000-16755800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:16741000-16758400	Weak transcription	Aorta	Aorta
16	chr5:16741200-16782000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:16741400-16754600	Weak transcription	Fetal Kidney	kidney
18	chr5:16741800-16761400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:16742000-16747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:16742200-16746800	Weak transcription	HMEC	breast
21	chr5:16742200-16751800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:16742200-16752000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:16742200-16752600	Weak transcription	NHEK	skin
24	chr5:16742400-16747600	Weak transcription	Fetal Stomach	stomach
25	chr5:16742400-16757800	Weak transcription	Adipose Nuclei	Adipose
26	chr5:16742400-16761800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:16742400-16773400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:16742600-16749000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:16742600-16749600	Weak transcription	NHLF	lung
30	chr5:16742600-16750000	Weak transcription	Brain Germinal Matrix	brain
31	chr5:16742800-16749600	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:16742800-16751200	Weak transcription	NHDF-Ad	bronchial
33	chr5:16742800-16754400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:16742800-16767800	Weak transcription	Fetal Brain Female	brain
35	chr5:16743400-16750600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:16743400-16753800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:16743400-16760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:16743600-16747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:16743600-16777600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:16743800-16749800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:16744000-16754200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:16744000-16754200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:16744600-16749200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:16744800-16746800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:16744800-16746800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:16744800-16747000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:16744800-16747000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:16744800-16747600	Weak transcription	Pancreas	Pancrea
49	chr5:16744800-16747800	Enhancers	HepG2	liver
50	chr5:16744800-16749000	Weak transcription	Lung	lung

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