Variant report

Variant	rs352014
Chromosome Location	chr4:74809600-74809601
allele	G/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	TEAD4	chr4:74809198-74809645	H1-hESC	embryonic stem cell:	n/a	n/a
2	HDAC2	chr4:74809202-74809680	H1-hESC	embryonic stem cell:	n/a	n/a
3	POU5F1	chr4:74809132-74809763	H1-hESC	embryonic stem cell:	n/a	n/a
4	POU5F1	chr4:74809325-74809701	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr4:74809248-74809678	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74801511..74803717-chr4:74807849..74809855,2	K562	blood:

Variant related genes	Relation type
HNRNPA1P55	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs164754	0.83[AMR][1000 genomes]
rs184761	0.83[AMR][1000 genomes]
rs2564595	0.83[AMR][1000 genomes]
rs2573029	0.83[AMR][1000 genomes]
rs34943257	0.83[AMR][1000 genomes]
rs352011	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352012	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352015	0.83[AMR][1000 genomes]
rs352016	0.83[AMR][1000 genomes]
rs352017	0.83[AMR][1000 genomes]
rs352021	0.83[AMR][1000 genomes]
rs352022	0.83[AMR][1000 genomes]
rs352028	0.83[AMR][1000 genomes]
rs352034	0.83[AMR][1000 genomes]
rs352035	0.83[AMR][1000 genomes]
rs395134	0.83[AMR][1000 genomes]
rs447672	0.83[AMR][1000 genomes]
rs648318	0.83[AMR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer 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 target site	40 gene(s)	inside rSNPs	diseases
4	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv1010272	chr4:74802868-74813081	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74808400-74809600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
2	chr4:74808400-74809600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:74808400-74809800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr4:74808400-74809800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:74808600-74809600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr4:74809000-74809600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr4:74809000-74810000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:74809200-74809600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
9	chr4:74809200-74809600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr4:74809200-74809800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
11	chr4:74809200-74809800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:74809200-74809800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:74809400-74809600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:74809400-74809600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:74809400-74809600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:74809400-74809600	Enhancers	HUVEC	blood vessel
17	chr4:74809400-74809800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr4:74809400-74809800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr4:74809400-74810400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr4:74809600-74809800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:74809600-74809800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:74809600-74809800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:74809600-74809800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
24	chr4:74809600-74809800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:74809600-74809800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:74809600-74809800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:74809600-74809800	Bivalent Enhancer	Brain Anterior Caudate	brain
28	chr4:74809600-74809800	Bivalent Enhancer	Brain Germinal Matrix	brain
29	chr4:74809600-74809800	Enhancers	Pancreas	Pancrea
30	chr4:74809600-74809800	Enhancers	HMEC	breast
31	chr4:74809600-74809800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr4:74809600-74809800	Flanking Bivalent TSS/Enh	NHEK	skin
33	chr4:74809600-74810000	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr4:74809600-74810000	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr4:74809600-74810000	Flanking Active TSS	HUVEC	blood vessel
36	chr4:74809600-74810000	Flanking Bivalent TSS/Enh	NHLF	lung
37	chr4:74809600-74810200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:74809600-74810200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:74809600-74810200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:74809600-74810200	Bivalent/Poised TSS	NH-A	brain
41	chr4:74809600-74810400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr4:74809600-74810400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:74809600-74810400	Bivalent/Poised TSS	Osteobl	bone
44	chr4:74809600-74810600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr4:74809600-74810600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr4:74809600-74810600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:74809600-74810600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr4:74809600-74810600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr4:74809600-74810600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr4:74809600-74810600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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