Variant report

Variant	rs7665531
Chromosome Location	chr4:129097901-129097902
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	MAFK	chr4:129097874-129098035	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr4:129097823-129098171	HepG2	liver:	n/a	n/a
3	MAFK	chr4:129097841-129098169	HepG2	liver:	n/a	n/a
4	MAFK	chr4:129097810-129098168	IMR90	lung:	n/a	n/a
5	MAFK	chr4:129097878-129098211	K562	blood:	n/a	n/a
6	MAFF	chr4:129097828-129098169	HepG2	liver:	n/a	chr4:129097977-129097995
7	MAFF	chr4:129097824-129098103	K562	blood:	n/a	chr4:129097977-129097995

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129093960..129096001-chr4:129097023..129099172,2	K562	blood:

Variant related genes	Relation type
LARP1B	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12108510	1.00[AFR][1000 genomes]
rs28720048	1.00[AFR][1000 genomes]
rs6818207	1.00[YRI][hapmap]
rs6844291	1.00[YRI][hapmap]
rs7658443	1.00[AFR][1000 genomes]
rs7694045	1.00[YRI][hapmap];1.00[AFR][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	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
5	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
6	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129067000-129107600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:129077400-129112600	Weak transcription	Left Ventricle	heart
3	chr4:129077400-129122000	Weak transcription	Aorta	Aorta
4	chr4:129077600-129103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:129077600-129120600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:129078000-129103400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:129078000-129107800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:129078000-129107800	Weak transcription	Fetal Stomach	stomach
9	chr4:129078000-129108000	Weak transcription	Gastric	stomach
10	chr4:129082800-129098400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:129083600-129112600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:129083800-129102400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:129084800-129099400	Weak transcription	Liver	Liver
14	chr4:129084800-129104000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:129084800-129107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:129084800-129112400	Weak transcription	NHDF-Ad	bronchial
17	chr4:129085200-129098000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:129085200-129098000	Weak transcription	HSMM	muscle
19	chr4:129085800-129105400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:129089600-129102400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:129089600-129103400	Weak transcription	Fetal Intestine Large	intestine
22	chr4:129089800-129104000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:129090000-129104400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:129091600-129104000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:129092600-129107800	Weak transcription	Pancreas	Pancrea
26	chr4:129092600-129122000	Weak transcription	Esophagus	oesophagus
27	chr4:129093800-129107800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:129094400-129107200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:129094600-129099600	Weak transcription	HepG2	liver
30	chr4:129094600-129107800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:129094600-129122200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:129094600-129131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:129094800-129107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:129095000-129108400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:129095000-129112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:129095800-129104200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:129096000-129101000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr4:129096200-129107800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:129096400-129104000	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:129096600-129107800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:129096600-129112600	Weak transcription	GM12878-XiMat	blood
42	chr4:129096600-129121200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:129096800-129108000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:129097000-129105800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:129097200-129104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:129097400-129099600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:129097400-129104000	Weak transcription	HSMMtube	muscle
48	chr4:129097400-129112400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:129097600-129112600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:129097800-129100000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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