Variant report

Variant	rs3738249
Chromosome Location	chr1:45345355-45345356
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	chr1:45344643-45345405	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45284257..45286382-chr1:45343717..45346467,2	K562	blood:
2	chr1:45344619..45346710-chr1:45475066..45477559,2	MCF-7	breast:
3	chr1:45344734..45347015-chr1:45348415..45350873,2	K562	blood:
4	chr1:45183934..45186211-chr1:45344753..45346709,2	K562	blood:

Variant related genes	Relation type
EIF2B3	TF binding region
ENSG00000202444	Chromatin interaction
ENSG00000126107	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11573544	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573571	0.83[ASN][1000 genomes]
rs12072767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2234479	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2355951	0.86[ASN][1000 genomes]
rs263958	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263993	0.86[ASN][1000 genomes]
rs264000	0.86[ASN][1000 genomes]
rs264016	0.86[ASN][1000 genomes]
rs41269075	0.83[ASN][1000 genomes]
rs41269093	0.83[ASN][1000 genomes]
rs41269097	0.86[ASN][1000 genomes]
rs41269101	0.86[ASN][1000 genomes]
rs41311199	0.83[ASN][1000 genomes]
rs449870	0.86[ASN][1000 genomes]
rs474207	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs506691	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs638062	0.86[ASN][1000 genomes]
rs7533668	0.86[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	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
2	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
4	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45308800-45345400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:45309400-45350400	Weak transcription	HUVEC	blood vessel
4	chr1:45309600-45352400	Weak transcription	Fetal Heart	heart
5	chr1:45309600-45354200	Weak transcription	Fetal Brain Male	brain
6	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
7	chr1:45314600-45349000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:45315000-45349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:45316000-45349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:45316600-45351800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:45317800-45355600	Weak transcription	NHDF-Ad	bronchial
12	chr1:45320000-45348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:45322000-45350400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
15	chr1:45326000-45346600	Weak transcription	HMEC	breast
16	chr1:45326800-45349000	Weak transcription	GM12878-XiMat	blood
17	chr1:45326800-45350400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:45327800-45350000	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:45331200-45352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:45331600-45352400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:45332600-45357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:45333400-45357000	Weak transcription	Fetal Kidney	kidney
23	chr1:45334600-45371800	Weak transcription	Gastric	stomach
24	chr1:45336000-45345400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:45336000-45347600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:45336200-45345400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:45337400-45355600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:45337800-45347000	Weak transcription	Fetal Brain Female	brain
29	chr1:45338800-45349000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:45340800-45361800	Weak transcription	Aorta	Aorta
31	chr1:45341200-45352200	Weak transcription	Fetal Lung	lung
32	chr1:45341200-45354000	Weak transcription	Stomach Mucosa	stomach
33	chr1:45341200-45355600	Weak transcription	NHLF	lung
34	chr1:45341400-45346800	Weak transcription	Thymus	Thymus
35	chr1:45341400-45348600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:45341400-45349000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:45341400-45354800	Weak transcription	Psoas Muscle	Psoas
38	chr1:45342800-45347200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:45342800-45347600	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:45342800-45348000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:45343000-45345400	Strong transcription	Brain Substantia Nigra	brain
42	chr1:45343000-45345600	Strong transcription	Brain Anterior Caudate	brain
43	chr1:45343000-45345600	Strong transcription	Brain Cingulate Gyrus	brain
44	chr1:45343000-45345800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:45343000-45345800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:45343000-45345800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:45343000-45345800	Strong transcription	Adipose Nuclei	Adipose
48	chr1:45343000-45345800	Strong transcription	Pancreas	Pancrea
49	chr1:45343000-45346000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:45343000-45346200	Strong transcription	Primary monocytes fromperipheralblood	blood

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