Variant report

Variant	rs16869070
Chromosome Location	chr5:16741983-16741984
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	chr5:16741703-16742507	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:16741708-16742484	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr5:16741852-16742171	PFSK-1	brain:	n/a	n/a
4	EP300	chr5:16741905-16742168	SK-N-SH_RA	brain:	n/a	n/a
5	JUND	chr5:16740118-16742561	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:16741633-16742715	SK-N-MC	brain:	n/a	n/a
7	CHD1	chr5:16740537-16742462	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:16741571-16742550	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr5:16740840-16742771	SK-N-SH	brain:	n/a	chr5:16741889-16741903 chr5:16741342-16741356
10	SIN3AK20	chr5:16741865-16742124	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBP	chr5:16741853-16742806	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr5:16741883-16742490	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP4	chr5:16741977-16742519	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:16741901-16742487	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr5:16741657-16742506	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr5:16741755-16742546	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:16741899-16742191	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr5:16741921-16742549	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF7	chr5:16741616-16742482	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr5:16741641-16742773	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr5:16740064-16742629	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr5:16741749-16742538	H1-neurons	neurons:	n/a	n/a
23	SIN3A	chr5:16741745-16742677	H1-hESC	embryonic stem cell:	n/a	chr5:16742335-16742344
24	GTF2F1	chr5:16741969-16742523	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr5:16741800-16742541	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr5:16741860-16742197	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
MYO10	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2625196	1.00[TSI][hapmap]
rs6887114	1.00[TSI][hapmap]

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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16730800-16744400	Weak transcription	HSMM	muscle
2	chr5:16734600-16744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:16735200-16746600	Weak transcription	HSMMtube	muscle
4	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
5	chr5:16736800-16756600	Weak transcription	Ovary	ovary
6	chr5:16736800-16758200	Weak transcription	Spleen	Spleen
7	chr5:16736800-16761200	Weak transcription	Hela-S3	cervix
8	chr5:16736800-16761800	Weak transcription	Colonic Mucosa	Colon
9	chr5:16736800-16762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:16737000-16742000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:16737000-16742000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:16738000-16742400	Active TSS	Fetal Brain Female	brain
14	chr5:16738000-16743800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:16738000-16746400	Weak transcription	Osteobl	bone
16	chr5:16738400-16742000	Weak transcription	Lung	lung
17	chr5:16738400-16748800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:16738600-16744400	Weak transcription	Gastric	stomach
19	chr5:16738600-16746800	Weak transcription	Fetal Intestine Large	intestine
20	chr5:16739200-16744400	Weak transcription	Pancreas	Pancrea
21	chr5:16739200-16750600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:16739400-16742000	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr5:16739400-16742400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:16739400-16758000	Weak transcription	Stomach Mucosa	stomach
25	chr5:16739600-16742000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr5:16739600-16742400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:16739800-16742200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr5:16739800-16742200	Active TSS	Brain Germinal Matrix	brain
29	chr5:16739800-16742400	Active TSS	H1 Cell Line	embryonic stem cell
30	chr5:16740000-16742000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:16740000-16742000	Active TSS	Brain Cingulate Gyrus	brain
32	chr5:16740000-16742200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr5:16740000-16742200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:16740000-16742200	Active TSS	Fetal Muscle Trunk	muscle
35	chr5:16740000-16742600	Active TSS	Brain Hippocampus Middle	brain
36	chr5:16740200-16742000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:16740200-16742200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:16740200-16742200	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr5:16740200-16742200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:16740200-16742200	Active TSS	Brain Angular Gyrus	brain
41	chr5:16740200-16742200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:16740200-16742200	Active TSS	Brain Substantia Nigra	brain
43	chr5:16740200-16742200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr5:16740400-16742000	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr5:16740400-16742200	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:16740400-16742600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:16740400-16747200	Weak transcription	Fetal Intestine Small	intestine
48	chr5:16740400-16748200	Weak transcription	Right Ventricle	heart
49	chr5:16740600-16742000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr5:16740600-16742000	Strong transcription	Rectal Mucosa Donor 29	rectum

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