Variant report

Variant	rs16916952
Chromosome Location	chr8:52816725-52816726
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	chr8:52816710-52817102	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:52814869..52817627-chr8:52818726..52822449,3	MCF-7	breast:
2	chr8:52816572..52819580-chr8:52820038..52823147,3	K562	blood:
3	chr8:52813732..52817292-chr8:52828515..52831149,4	K562	blood:

Variant related genes	Relation type
PCMTD1	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10086425	0.86[JPT][hapmap]
rs10086504	0.96[YRI][hapmap]
rs10101163	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10105030	0.86[JPT][hapmap]
rs1013621	0.85[JPT][hapmap]
rs1013622	0.86[JPT][hapmap]
rs10958304	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958305	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs11774370	0.86[JPT][hapmap]
rs11775587	0.81[EUR][1000 genomes]
rs11775611	0.84[EUR][1000 genomes]
rs11784869	0.81[EUR][1000 genomes]
rs11787499	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12335014	0.85[JPT][hapmap]
rs12681734	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1517306	0.86[JPT][hapmap]
rs16916858	0.85[JPT][hapmap]
rs16916966	0.96[YRI][hapmap]
rs2176121	0.86[JPT][hapmap]
rs34058697	0.81[EUR][1000 genomes]
rs34372756	0.84[EUR][1000 genomes]
rs35032384	0.82[EUR][1000 genomes]
rs4242479	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4565453	0.85[JPT][hapmap]
rs6473660	0.86[JPT][hapmap]
rs6986544	0.86[JPT][hapmap]
rs71513561	0.81[EUR][1000 genomes]
rs7462096	0.85[JPT][hapmap]
rs7814421	0.85[JPT][hapmap]
rs925762	0.86[JPT][hapmap]
rs9298462	0.85[JPT][hapmap]
rs9650179	0.84[EUR][1000 genomes]
rs9650180	0.83[EUR][1000 genomes]
rs9650305	0.84[EUR][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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52812800-52816800	Weak transcription	Gastric	stomach
2	chr8:52812800-52822200	Weak transcription	Esophagus	oesophagus
3	chr8:52812800-52827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:52812800-52833400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:52813200-52816800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:52813200-52822200	Weak transcription	Aorta	Aorta
7	chr8:52813200-52831000	Weak transcription	Right Ventricle	heart
8	chr8:52813200-52833200	Weak transcription	Brain Angular Gyrus	brain
9	chr8:52813400-52816800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:52813400-52816800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:52813400-52826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:52813400-52827000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:52813400-52829000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:52813400-52829200	Weak transcription	Brain Anterior Caudate	brain
15	chr8:52813400-52837200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:52813600-52837400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:52813800-52831600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:52813800-52831600	Weak transcription	Fetal Stomach	stomach
19	chr8:52813800-52833200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:52813800-52835800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:52813800-52837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:52814000-52816800	Weak transcription	Lung	lung
23	chr8:52814000-52817400	Weak transcription	Colonic Mucosa	Colon
24	chr8:52814000-52833200	Weak transcription	Fetal Lung	lung
25	chr8:52814000-52833600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:52814000-52836200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:52814000-52837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:52814000-52839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:52814200-52816800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:52814200-52821200	Weak transcription	Thymus	Thymus
31	chr8:52814200-52842000	Weak transcription	Brain Substantia Nigra	brain
32	chr8:52814200-52850000	Weak transcription	Spleen	Spleen
33	chr8:52814800-52816800	Weak transcription	Left Ventricle	heart
34	chr8:52814800-52817200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:52814800-52818800	Weak transcription	Psoas Muscle	Psoas
36	chr8:52814800-52821800	Weak transcription	Fetal Intestine Small	intestine
37	chr8:52814800-52829600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:52814800-52834200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:52814800-52834600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:52814800-52837200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:52815000-52816800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:52815000-52852000	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:52815200-52816800	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:52815200-52816800	Weak transcription	Pancreas	Pancrea
45	chr8:52815200-52821400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:52815200-52823600	Weak transcription	Adipose Nuclei	Adipose
47	chr8:52815200-52827200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:52815200-52828400	Weak transcription	Dnd41	blood
49	chr8:52815200-52833000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:52815200-52837400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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