Variant report

Variant	rs34473224
Chromosome Location	chr4:15681414-15681415
allele	A/C
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	chr4:15681294-15681970	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF384	chr4:15680434-15681617	K562	blood:	n/a	chr4:15681349-15681357
3	POLR2A	chr4:15681359-15681562	MCF10A-Er-Src	breast:	n/a	n/a
4	CUX1	chr4:15681278-15681862	K562	blood:	n/a	n/a
5	POLR2A	chr4:15681022-15682019	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:15651703..15660794-chr4:15677607..15686235,25	K562	blood:
2	chr4:15652080..15658606-chr4:15677363..15685579,17	MCF-7	breast:
3	chr4:15655595..15658742-chr4:15680185..15687360,10	MCF-7	breast:
4	chr4:15650206..15660298-chr4:15677140..15687517,25	K562	blood:

Variant related genes	Relation type
FAM200B	TF binding region
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10005305	0.94[AFR][1000 genomes]
rs10008878	0.96[AFR][1000 genomes]
rs10009089	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10025875	0.96[AFR][1000 genomes]
rs10034315	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11722757	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11722854	0.81[ASN][1000 genomes]
rs11723478	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11726647	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11732953	0.92[AFR][1000 genomes]
rs12642407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650529	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13134177	0.91[AFR][1000 genomes]
rs13150957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1786	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394730	0.97[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs28402170	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28447067	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28604503	0.81[ASN][1000 genomes]
rs28644177	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28820655	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34559117	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34955342	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35013326	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35120298	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3756247	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775956	0.97[AFR][1000 genomes]
rs3775957	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4257653	0.98[ASN][1000 genomes]
rs4301111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4331772	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4346644	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4396986	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423870	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4484296	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4549375	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554069	0.97[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4600905	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4698116	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6414764	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6449150	0.81[AFR][1000 genomes]
rs6815254	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816982	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823775	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6824422	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6825051	0.83[AFR][1000 genomes]
rs6826058	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6828776	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6839654	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843740	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848779	0.96[AFR][1000 genomes]
rs6852735	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6857442	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7434484	0.81[ASN][1000 genomes]
rs7667175	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698596	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994518	0.97[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3361772	chr4:15666732-15684418	Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15658200-15682200	Weak transcription	Fetal Stomach	stomach
2	chr4:15664800-15681800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:15668400-15682800	Weak transcription	Fetal Brain Male	brain
4	chr4:15671000-15681600	Weak transcription	Fetal Lung	lung
5	chr4:15673800-15682800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:15675200-15682600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:15677400-15682800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:15677600-15682800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:15678600-15681600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:15679000-15681600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:15679000-15681800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:15679000-15682400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr4:15679200-15681600	Weak transcription	HSMM	muscle
14	chr4:15679200-15682200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:15679400-15681600	Weak transcription	Stomach Mucosa	stomach
16	chr4:15679400-15681800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:15679400-15682200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:15679400-15682800	Weak transcription	Pancreas	Pancrea
19	chr4:15679400-15685400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:15679400-15685600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:15679600-15681600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:15679600-15681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:15679600-15682000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:15679600-15682000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:15679600-15682600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:15679600-15682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:15679600-15682800	Weak transcription	Esophagus	oesophagus
28	chr4:15679600-15684200	Active TSS	GM12878-XiMat	blood
29	chr4:15679600-15685400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr4:15679600-15685600	Active TSS	A549	lung
31	chr4:15680000-15681800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:15680000-15682400	Flanking Active TSS	HUVEC	blood vessel
33	chr4:15680000-15682600	Weak transcription	Liver	Liver
34	chr4:15680200-15681600	Weak transcription	Fetal Intestine Small	intestine
35	chr4:15680200-15685000	Active TSS	K562	blood
36	chr4:15680400-15682400	Flanking Active TSS	Dnd41	blood
37	chr4:15680400-15684200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr4:15680800-15681600	Enhancers	Fetal Thymus	thymus
39	chr4:15680800-15681800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:15680800-15682200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:15680800-15684800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr4:15681000-15681600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:15681000-15682000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:15681000-15685400	Active TSS	NH-A	brain
45	chr4:15681200-15681600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:15681200-15681600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:15681200-15681800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
48	chr4:15681200-15681800	Flanking Active TSS	NHEK	skin
49	chr4:15681200-15681800	Flanking Active TSS	NHLF	lung
50	chr4:15681200-15682000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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