Variant report

Variant	rs34018438
Chromosome Location	chr5:74323529-74323530
allele	C/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	MAFK	chr5:74323511-74323688	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000249856	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11957690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12516438	0.86[EUR][1000 genomes]
rs3811986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4285200	0.91[EUR][1000 genomes]
rs4290996	0.87[EUR][1000 genomes]
rs4492095	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4704166	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56682994	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58243356	0.89[EUR][1000 genomes]
rs59923116	0.86[EUR][1000 genomes]
rs59992473	0.87[EUR][1000 genomes]
rs61616736	0.94[EUR][1000 genomes]
rs62369160	0.91[EUR][1000 genomes]
rs62369164	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62369166	0.86[EUR][1000 genomes]
rs62369167	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6874469	0.91[EUR][1000 genomes]
rs7706858	0.96[EUR][1000 genomes]
rs7725085	0.91[EUR][1000 genomes]
rs7726378	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7734427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv830352	chr5:74189495-74337944	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv969994	chr5:74314591-74330479	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3370654	chr5:74322746-74323944	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74313600-74341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:74314600-74324800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:74315200-74332800	Weak transcription	NHDF-Ad	bronchial
4	chr5:74316200-74324200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:74316400-74328000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:74316400-74328200	Weak transcription	Placenta	Placenta
7	chr5:74316400-74330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:74317200-74331400	Weak transcription	Fetal Intestine Large	intestine
9	chr5:74317400-74323800	Weak transcription	Gastric	stomach
10	chr5:74317400-74326800	Weak transcription	Fetal Intestine Small	intestine
11	chr5:74317600-74344200	Weak transcription	Ovary	ovary
12	chr5:74317800-74332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:74319800-74330000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:74319800-74330200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:74320000-74325400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:74320200-74323600	Weak transcription	Primary T cells from cord blood	blood
17	chr5:74320200-74323800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:74320200-74324400	Weak transcription	Fetal Thymus	thymus
19	chr5:74320200-74329800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:74320400-74323600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:74320400-74324400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:74320400-74324400	Weak transcription	Thymus	Thymus
23	chr5:74320400-74329000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:74320400-74329200	Weak transcription	Stomach Mucosa	stomach
25	chr5:74320400-74332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:74320600-74323600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:74320600-74323600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:74320600-74323600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:74320600-74328000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr5:74320800-74329000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:74322200-74323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:74322800-74334400	Weak transcription	Aorta	Aorta
33	chr5:74323200-74323800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:74323400-74325000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:74323400-74325400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr5:74323400-74325400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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