Variant report

Variant	rs16863416
Chromosome Location	chr1:170513402-170513403
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	chr1:170513150-170513550	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170500119..170501652-chr1:170512143..170514479,2	MCF-7	breast:
2	chr1:170499494..170507345-chr1:170507805..170517333,18	K562	blood:

Variant related genes	Relation type
GORAB	TF binding region
ENSG00000231407	Chromatin interaction
ENSG00000120370	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10919435	0.88[EUR][1000 genomes]
rs12038857	0.88[EUR][1000 genomes]
rs12408432	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12563881	0.88[EUR][1000 genomes]
rs12565083	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16863397	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1928707	0.88[EUR][1000 genomes]
rs56318720	0.90[AMR][1000 genomes]
rs6661527	0.88[EUR][1000 genomes]
rs6680284	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72707648	0.90[AMR][1000 genomes]
rs72709753	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9787312	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170501800-170516000	Weak transcription	Spleen	Spleen
2	chr1:170502000-170515200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:170502000-170517200	Weak transcription	Esophagus	oesophagus
4	chr1:170502200-170521000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:170502400-170514800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:170502600-170520800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:170502600-170523400	Weak transcription	Fetal Brain Male	brain
8	chr1:170502800-170513800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:170503000-170513800	Weak transcription	Lung	lung
10	chr1:170503000-170513800	Weak transcription	Small Intestine	intestine
11	chr1:170503000-170516400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:170503000-170523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:170503800-170516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:170504400-170514000	Weak transcription	K562	blood
15	chr1:170505000-170524800	Strong transcription	Dnd41	blood
16	chr1:170505400-170522800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:170506000-170522200	Strong transcription	Primary B cells from cord blood	blood
18	chr1:170506600-170513800	Weak transcription	Psoas Muscle	Psoas
19	chr1:170506600-170516800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:170506600-170519200	Weak transcription	Gastric	stomach
21	chr1:170506600-170519200	Weak transcription	Right Ventricle	heart
22	chr1:170507400-170516400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:170507400-170516400	Weak transcription	HSMMtube	muscle
24	chr1:170507600-170515800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:170507600-170516200	Weak transcription	Stomach Mucosa	stomach
26	chr1:170507600-170523600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:170507600-170524000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:170507800-170516400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:170507800-170521800	Strong transcription	Fetal Lung	lung
30	chr1:170507800-170522200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:170507800-170522600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:170508000-170514600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:170508000-170516400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:170508000-170522000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:170508000-170523000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:170508200-170513600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:170508200-170513800	Strong transcription	NH-A	brain
38	chr1:170508200-170516400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:170508200-170522200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:170508200-170523400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:170508200-170524400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:170508400-170513800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr1:170508400-170513800	Strong transcription	HMEC	breast
44	chr1:170508400-170513800	Strong transcription	HUVEC	blood vessel
45	chr1:170508400-170514200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:170508400-170515200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:170508400-170515200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:170508400-170516400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:170508400-170519600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:170508400-170521600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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