Variant report

Variant	rs60696673
Chromosome Location	chr1:170509470-170509471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:170509413-170509951	SK-N-SH	brain:	n/a	n/a
2	EP300	chr1:170509430-170509485	K562	blood:	n/a	n/a
3	GATA3	chr1:170509384-170510012	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:170499484..170505100-chr1:170505427..170511134,13	MCF-7	breast:
2	chr1:170503696..170505638-chr1:170508437..170510651,3	MCF-7	breast:
3	chr1:170499494..170507345-chr1:170507805..170517333,18	K562	blood:
4	chr1:170507810..170510159-chr1:170513671..170515970,2	MCF-7	breast:
5	chr1:170499494..170504219-chr1:170507198..170509728,4	K562	blood:

No data

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10919427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12075840	0.86[AFR][1000 genomes]
rs12097444	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2901402	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59597526	0.92[AFR][1000 genomes]
rs6676293	0.86[AFR][1000 genomes]
rs73029152	0.81[AFR][1000 genomes]
rs73029169	1.00[AMR][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:125 , 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	chr1:170502400-170512200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:170502400-170514800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:170502600-170509800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:170502600-170510200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:170502600-170510200	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:170502600-170511600	Weak transcription	Brain Substantia Nigra	brain
11	chr1:170502600-170512000	Weak transcription	Aorta	Aorta
12	chr1:170502600-170520800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:170502600-170523400	Weak transcription	Fetal Brain Male	brain
14	chr1:170502800-170509600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:170502800-170509600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:170502800-170509800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:170502800-170512200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:170502800-170513800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:170503000-170510400	Weak transcription	Colonic Mucosa	Colon
20	chr1:170503000-170512200	Weak transcription	Fetal Kidney	kidney
21	chr1:170503000-170513800	Weak transcription	Lung	lung
22	chr1:170503000-170513800	Weak transcription	Small Intestine	intestine
23	chr1:170503000-170516400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:170503000-170523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:170503200-170511400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:170503200-170512200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:170503600-170512400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:170503800-170513400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:170503800-170516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:170504200-170510600	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:170504200-170512200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:170504400-170514000	Weak transcription	K562	blood
33	chr1:170505000-170524800	Strong transcription	Dnd41	blood
34	chr1:170505400-170522800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:170506000-170522200	Strong transcription	Primary B cells from cord blood	blood
36	chr1:170506600-170511800	Weak transcription	Right Atrium	heart
37	chr1:170506600-170512200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:170506600-170513800	Weak transcription	Psoas Muscle	Psoas
39	chr1:170506600-170516800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:170506600-170519200	Weak transcription	Gastric	stomach
41	chr1:170506600-170519200	Weak transcription	Right Ventricle	heart
42	chr1:170507200-170509600	Weak transcription	GM12878-XiMat	blood
43	chr1:170507200-170512600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:170507400-170513000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:170507400-170516400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:170507400-170516400	Weak transcription	HSMMtube	muscle
47	chr1:170507600-170515800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:170507600-170516200	Weak transcription	Stomach Mucosa	stomach
49	chr1:170507600-170523600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:170507600-170524000	Strong transcription	Monocytes-CD14+_RO01746	blood

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