Variant report

Variant	rs3742368
Chromosome Location	chr14:104206854-104206855
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	EGR1	chr14:104206678-104206856	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104203453..104205792-chr14:104205884..104208278,3	MCF-7	breast:
2	chr14:104199732..104203374-chr14:104205758..104208488,4	MCF-7	breast:

Variant related genes	Relation type
PPP1R13B	TF binding region
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11848174	1.00[ASN][1000 genomes]
rs11849022	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17101760	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17101763	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17101767	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2024668	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2274265	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3212031	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212049	0.92[ASN][1000 genomes]
rs3212056	0.92[ASN][1000 genomes]
rs3212058	0.92[ASN][1000 genomes]
rs3212064	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212071	0.92[ASN][1000 genomes]
rs3212078	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212086	0.92[ASN][1000 genomes]
rs3212106	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212112	0.92[ASN][1000 genomes]
rs3212117	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212121	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212133	0.84[ASN][1000 genomes]
rs34100926	0.92[ASN][1000 genomes]
rs35905888	1.00[ASN][1000 genomes]
rs3736911	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3742362	0.84[ASN][1000 genomes]
rs3742464	0.84[ASN][1000 genomes]
rs3783406	0.84[ASN][1000 genomes]
rs55650682	0.92[ASN][1000 genomes]
rs55958706	0.92[ASN][1000 genomes]
rs56726433	1.00[ASN][1000 genomes]
rs58899741	1.00[ASN][1000 genomes]
rs58909811	0.84[ASN][1000 genomes]
rs74085289	1.00[ASN][1000 genomes]
rs74086597	1.00[ASN][1000 genomes]
rs74088714	1.00[ASN][1000 genomes]
rs8009618	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8018770	0.84[ASN][1000 genomes]
rs8020907	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8021384	1.00[ASN][1000 genomes]
rs9282879	0.92[ASN][1000 genomes]
rs9707589	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104184000-104209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:104184200-104214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:104184400-104211000	Weak transcription	Hela-S3	cervix
4	chr14:104191200-104209200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:104192200-104216600	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:104194000-104209200	Strong transcription	Fetal Intestine Large	intestine
8	chr14:104194200-104211400	Strong transcription	Colonic Mucosa	Colon
9	chr14:104194200-104220400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr14:104194400-104208800	Strong transcription	Primary T cells from cord blood	blood
11	chr14:104194800-104209200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr14:104194800-104209200	Strong transcription	Fetal Intestine Small	intestine
13	chr14:104194800-104212000	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr14:104195800-104215200	Weak transcription	HSMM	muscle
15	chr14:104196000-104214200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
17	chr14:104196200-104207200	Weak transcription	Primary B cells from cord blood	blood
18	chr14:104198000-104218800	Strong transcription	Gastric	stomach
19	chr14:104198200-104209000	Strong transcription	Liver	Liver
20	chr14:104198200-104224800	Strong transcription	Left Ventricle	heart
21	chr14:104199400-104211800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:104199600-104209000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:104200000-104220200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:104200200-104209000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:104200200-104214400	Weak transcription	Aorta	Aorta
26	chr14:104200200-104219600	Weak transcription	A549	lung
27	chr14:104200400-104207400	Weak transcription	NH-A	brain
28	chr14:104200400-104210400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:104200400-104212800	Weak transcription	Osteobl	bone
30	chr14:104200400-104231800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:104200600-104207800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:104200600-104208800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:104200600-104209000	Strong transcription	NHEK	skin
34	chr14:104200600-104216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:104200800-104207400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:104201000-104207400	Weak transcription	Fetal Thymus	thymus
37	chr14:104201000-104209000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:104201000-104215800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:104201000-104267600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:104201400-104214800	Weak transcription	GM12878-XiMat	blood
41	chr14:104201600-104207400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:104201800-104207200	Weak transcription	HUVEC	blood vessel
43	chr14:104201800-104207600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:104201800-104208600	Weak transcription	Fetal Kidney	kidney
45	chr14:104201800-104209200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:104202000-104207400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:104202000-104208800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:104202200-104207400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:104202400-104216200	Weak transcription	Fetal Heart	heart
50	chr14:104203000-104207400	Strong transcription	Spleen	Spleen

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