Variant report

Variant	rs7698825
Chromosome Location	chr4:144350692-144350693
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	EBF1	chr4:144350671-144350964	GM12878	blood:	n/a	chr4:144350803-144350814

Variant related genes	Relation type
GAB1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11725272	0.83[EUR][1000 genomes]
rs11933502	0.88[CEU][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11936966	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11945261	0.83[EUR][1000 genomes]
rs12512923	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13112122	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13112412	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13114896	0.88[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13128753	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1397529	0.88[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17017801	0.88[CEU][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1995931	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs28776014	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28924075	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28925907	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28925924	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28925926	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28925939	0.83[EUR][1000 genomes]
rs35152330	0.83[EUR][1000 genomes]
rs3795246	0.88[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4690785	0.92[CEU][hapmap];0.94[CHD][hapmap];0.81[AMR][1000 genomes]
rs59727559	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6833624	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6837464	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7696619	0.88[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9684453	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9685389	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][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	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019980	chr4:144350575-144399936	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:144327800-144361200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:144327800-144388200	Weak transcription	HepG2	liver
4	chr4:144328000-144359200	Weak transcription	Esophagus	oesophagus
5	chr4:144329000-144359400	Weak transcription	K562	blood
6	chr4:144329800-144352600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:144332400-144359200	Weak transcription	Pancreas	Pancrea
8	chr4:144332800-144359200	Weak transcription	HMEC	breast
9	chr4:144333000-144358800	Weak transcription	Right Ventricle	heart
10	chr4:144333000-144364600	Weak transcription	NHEK	skin
11	chr4:144333400-144350800	Weak transcription	Fetal Brain Male	brain
12	chr4:144333400-144359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:144333400-144362400	Weak transcription	NH-A	brain
14	chr4:144333600-144359800	Weak transcription	HSMMtube	muscle
15	chr4:144334000-144359400	Weak transcription	HUVEC	blood vessel
16	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:144338600-144359200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:144339400-144350800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
20	chr4:144339600-144354600	Weak transcription	Placenta	Placenta
21	chr4:144339600-144359400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:144340000-144359400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:144341800-144359400	Weak transcription	Psoas Muscle	Psoas
24	chr4:144342000-144382000	Weak transcription	Fetal Kidney	kidney
25	chr4:144342600-144359200	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:144342600-144359800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:144343000-144351200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:144344000-144363000	Weak transcription	Spleen	Spleen
29	chr4:144344200-144351000	Weak transcription	Fetal Heart	heart
30	chr4:144344600-144352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:144345600-144359200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:144346000-144355000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:144346200-144351600	Strong transcription	Fetal Intestine Large	intestine
34	chr4:144346800-144350800	Weak transcription	Primary B cells from cord blood	blood
35	chr4:144347000-144359200	Weak transcription	Lung	lung
36	chr4:144347000-144359200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:144347000-144359400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:144347000-144359600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:144347000-144382600	Weak transcription	Gastric	stomach
40	chr4:144347200-144354800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:144348000-144353600	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr4:144348200-144353400	ZNF genes & repeats	Liver	Liver
43	chr4:144348400-144351000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
44	chr4:144348600-144355000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr4:144349000-144353000	ZNF genes & repeats	Fetal Lung	lung
46	chr4:144349200-144352200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:144349400-144352800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:144349400-144352800	Weak transcription	Brain Angular Gyrus	brain
49	chr4:144349400-144353400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr4:144349400-144359200	Weak transcription	Aorta	Aorta

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