Variant report

Variant	rs10513493
Chromosome Location	chr3:156268453-156268454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:156267070-156269885	K562	blood:	n/a	n/a
2	POLR2A	chr3:156268245-156268911	HUVEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156268357..156274553-chr3:156389283..156394606,15	MCF-7	breast:
2	chr3:156260735..156275674-chr3:156389736..156397850,44	K562	blood:
3	chr3:156267109..156271448-chr3:156870440..156873447,4	K562	blood:
4	chr3:156267016..156271448-chr3:156870182..156873447,4	K562	blood:
5	chr3:156264459..156269953-chr3:156392362..156396309,4	K562	blood:
6	chr3:156267347..156269174-chr3:156297206..156300106,2	K562	blood:

No data

Variant related genes	Relation type
SSR3	TF binding region
ENSG00000163660	Chromatin interaction
ENSG00000163659	Chromatin interaction
ENSG00000201778	Chromatin interaction
ENSG00000243926	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1027915	0.94[CEU][hapmap]
rs1510277	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1510278	0.94[CEU][hapmap]
rs4680280	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs4680282	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs62285077	0.82[EUR][1000 genomes]
rs6768628	0.83[AFR][1000 genomes]
rs6785996	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs6797292	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs907060	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs908807	0.89[CEU][hapmap]
rs9820091	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv829764	chr3:156174824-156347774	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	nsv877683	chr3:156180366-156272351	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10513493	SSR3	Cis_1M	lymphoblastoid	RTeQTL
rs10513493	KCNAB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156252000-156270200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:156252200-156268600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:156253600-156271400	Weak transcription	Stomach Mucosa	stomach
4	chr3:156253800-156270800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr3:156254200-156270200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr3:156255200-156268600	Strong transcription	Dnd41	blood
7	chr3:156255200-156270600	Strong transcription	A549	lung
8	chr3:156255600-156270800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:156255800-156270200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:156255800-156270200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:156255800-156270600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr3:156255800-156270800	Strong transcription	Fetal Intestine Large	intestine
13	chr3:156256000-156268600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:156256200-156270400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:156256200-156270400	Strong transcription	Primary hematopoietic stem cells	blood
16	chr3:156256400-156270400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:156256600-156270600	Strong transcription	Primary B cells from cord blood	blood
18	chr3:156256800-156269400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:156256800-156269600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:156256800-156270600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:156256800-156271000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:156257000-156269600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:156257000-156270400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr3:156257000-156270600	Strong transcription	Fetal Thymus	thymus
25	chr3:156257000-156271000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr3:156257000-156271200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr3:156257200-156269600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:156257200-156270200	Strong transcription	Hela-S3	cervix
29	chr3:156257800-156268600	Weak transcription	Fetal Intestine Small	intestine
30	chr3:156257800-156269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:156257800-156270200	Weak transcription	Aorta	Aorta
32	chr3:156257800-156270600	Weak transcription	Fetal Brain Male	brain
33	chr3:156258400-156270400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr3:156258800-156270400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:156258800-156270600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr3:156259200-156270800	Strong transcription	Placenta	Placenta
37	chr3:156259400-156271000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr3:156259800-156271200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:156261200-156271200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:156261400-156268800	Genic enhancers	HSMM	muscle
41	chr3:156261600-156269600	Weak transcription	Esophagus	oesophagus
42	chr3:156262000-156268600	Genic enhancers	HUVEC	blood vessel
43	chr3:156262000-156271800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr3:156263000-156268600	Enhancers	Fetal Heart	heart
45	chr3:156263000-156270400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:156263200-156270800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:156264200-156268600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:156265000-156270800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
49	chr3:156265200-156268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:156265600-156269400	Genic enhancers	NHDF-Ad	bronchial

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