Variant report

Variant	rs632016
Chromosome Location	chr3:135977040-135977041
allele	C/T
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	chr3:135976918-135977375	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:135967895..135971293-chr3:135973278..135977937,5	MCF-7	breast:
2	chr3:135968568..135972532-chr3:135974380..135977728,5	K562	blood:
3	chr3:135914289..135916961-chr3:135976114..135978100,2	MCF-7	breast:

Variant related genes	Relation type
PCCB	TF binding region
ENSG00000114054	Chromatin interaction
ENSG00000174579	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1153871	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1153872	0.81[ASN][1000 genomes]
rs12330635	0.84[ASN][1000 genomes]
rs1278719	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1279425	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1279840	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1291921	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1618069	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1711171	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3755636	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4678428	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs483465	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs523118	0.88[EUR][1000 genomes]
rs534944	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs548288	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs576771	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs606725	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs645040	0.80[ASN][1000 genomes]
rs650505	0.95[ASN][1000 genomes]
rs665200	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs667920	0.81[ASN][1000 genomes]
rs684773	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs695983	0.81[ASN][1000 genomes]
rs696516	0.80[ASN][1000 genomes]
rs72493178	0.89[ASN][1000 genomes]
rs73222262	0.88[ASN][1000 genomes]
rs7628146	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7653249	0.85[EUR][1000 genomes]
rs895893	0.81[ASN][1000 genomes]
rs9848883	0.84[ASN][1000 genomes]
rs9856769	0.84[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	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv508246	chr3:135922023-136038622	Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv933522	chr3:135968919-135981180	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
4	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr3:135970000-135977200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:135970000-135980000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:135970200-135979000	Weak transcription	Esophagus	oesophagus
4	chr3:135970200-135980400	Weak transcription	Gastric	stomach
5	chr3:135970200-135984000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:135970200-135996000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:135970400-135979000	Weak transcription	HUVEC	blood vessel
8	chr3:135970400-135981600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:135970400-135995400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:135970600-135979200	Weak transcription	A549	lung
11	chr3:135970600-135979400	Weak transcription	HSMM	muscle
12	chr3:135970600-135979400	Weak transcription	NHDF-Ad	bronchial
13	chr3:135970600-135985200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:135970600-135985200	Weak transcription	HMEC	breast
15	chr3:135970600-135987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:135970600-135998800	Weak transcription	Fetal Brain Male	brain
17	chr3:135970600-135999200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:135970600-135999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:135970600-136039400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:135970800-135977200	Weak transcription	Right Ventricle	heart
21	chr3:135970800-135979200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:135970800-135981200	Weak transcription	Fetal Heart	heart
23	chr3:135970800-135986000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:135970800-135995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:135970800-135998000	Weak transcription	Hela-S3	cervix
26	chr3:135971000-135978600	Weak transcription	Small Intestine	intestine
27	chr3:135973400-135984200	Strong transcription	Fetal Stomach	stomach
28	chr3:135974000-135983400	Strong transcription	Fetal Thymus	thymus
29	chr3:135974000-135986800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:135974000-135986800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:135974000-135989400	Strong transcription	Dnd41	blood
32	chr3:135974200-135977200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr3:135974200-135977800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:135974200-135978000	Strong transcription	Primary T cells from cord blood	blood
35	chr3:135974200-135982400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:135974200-135982800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:135974200-135983200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr3:135974200-135983400	Strong transcription	Fetal Muscle Leg	muscle
39	chr3:135974200-135989600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:135974200-135989600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:135974400-135977400	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr3:135974400-135977400	Strong transcription	Fetal Lung	lung
43	chr3:135974400-135978200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:135974400-135978200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:135974400-135982600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:135974400-135983000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:135974400-135983000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:135974400-135983200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:135974400-135983600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:135974400-135984600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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