Variant report

Variant	rs34221525
Chromosome Location	chr5:68798118-68798119
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	FOS	chr5:68797824-68798139	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr5:68797639-68798358	MCF10A-Er-Src	breast:	n/a	n/a
3	JUN	chr5:68797823-68799069	Hela-S3	cervix:	n/a	n/a
4	FOS	chr5:68797826-68798195	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr5:68797666-68799167	Hela-S3	cervix:	n/a	chr5:68799063-68799073 chr5:68798128-68798142
6	GATA3	chr5:68798053-68798563	T-47D	breast:	n/a	n/a
7	FOSL2	chr5:68797720-68798271	A549	lung:	n/a	n/a
8	FOS	chr5:68797638-68799351	MCF10A-Er-Src	breast:	n/a	chr5:68798804-68798815 chr5:68799150-68799159
9	TEAD4	chr5:68797717-68798943	ECC-1	luminal epithelium:	n/a	n/a
10	JUND	chr5:68797698-68799251	SK-N-SH	brain:	n/a	chr5:68798804-68798815 chr5:68799150-68799159
11	JUND	chr5:68797574-68799258	Hela-S3	cervix:	n/a	chr5:68798804-68798815 chr5:68799150-68799159
12	FOS	chr5:68797819-68798181	HUVEC	blood vessel:	n/a	n/a
13	GATA3	chr5:68798049-68798656	T-47D	breast:	n/a	n/a
14	RFX5	chr5:68797707-68799184	Hela-S3	cervix:	n/a	chr5:68799010-68799026 chr5:68797736-68797745
15	FOSL2	chr5:68797715-68798363	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr5:68797860-68798121	HUVEC	blood vessel:	n/a	n/a
17	SIN3AK20	chr5:68797917-68798645	MCF-7	breast:	n/a	n/a
18	JUN	chr5:68797821-68798163	HUVEC	blood vessel:	n/a	n/a
19	GATA3	chr5:68797854-68798770	MCF-7	breast:	n/a	n/a
20	JUND	chr5:68797869-68798125	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68787536..68790695-chr5:68794621..68799046,5	MCF-7	breast:
2	chr5:68786861..68791714-chr5:68792845..68799561,13	MCF-7	breast:

Variant related genes	Relation type
OCLN	TF binding region
ENSG00000197822	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28493963	0.82[EUR][1000 genomes]
rs28659922	0.82[EUR][1000 genomes]
rs34532558	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35628909	0.81[EUR][1000 genomes]
rs55818294	0.82[EUR][1000 genomes]
rs56016558	0.82[EUR][1000 genomes]
rs60039937	0.82[EUR][1000 genomes]
rs61396502	0.81[EUR][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	nsv1018410	chr5:68692244-68822384	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1023116	chr5:68744307-68867282	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1034024	chr5:68760271-69118123	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68790000-68798200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:68790200-68824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68790600-68801600	Weak transcription	Gastric	stomach
4	chr5:68790800-68798600	Weak transcription	Lung	lung
5	chr5:68791400-68798200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:68791600-68798400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:68792800-68798200	Weak transcription	Fetal Kidney	kidney
8	chr5:68793000-68798200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:68793000-68798200	Weak transcription	HSMM	muscle
10	chr5:68793200-68798200	Weak transcription	GM12878-XiMat	blood
11	chr5:68793200-68798400	Weak transcription	HSMMtube	muscle
12	chr5:68793200-68813600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:68793400-68801600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:68793600-68798600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:68793600-68800200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:68793600-68806000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:68794000-68800200	Enhancers	Fetal Intestine Large	intestine
18	chr5:68795200-68799200	Enhancers	Fetal Intestine Small	intestine
19	chr5:68795400-68799800	Enhancers	Pancreas	Pancrea
20	chr5:68795600-68798600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:68795800-68798200	Enhancers	NH-A	brain
22	chr5:68796000-68798600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:68796200-68798200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:68796200-68798200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:68796200-68798400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:68796200-68798600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr5:68796400-68798400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:68796400-68805200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:68796600-68800000	Enhancers	Liver	Liver
30	chr5:68796800-68798400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:68797000-68798600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:68797000-68799200	Enhancers	Stomach Mucosa	stomach
33	chr5:68797000-68799800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:68797200-68798200	Enhancers	Hela-S3	cervix
35	chr5:68797200-68798200	Enhancers	NHEK	skin
36	chr5:68797200-68798600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:68797200-68799400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:68797200-68799400	Enhancers	HepG2	liver
39	chr5:68797400-68798200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:68797400-68798200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:68797400-68798200	Enhancers	HMEC	breast
42	chr5:68797400-68798400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:68797400-68798400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:68797400-68798400	Weak transcription	Colonic Mucosa	Colon
45	chr5:68797400-68799400	Enhancers	HUVEC	blood vessel
46	chr5:68797400-68799600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:68797400-68800000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:68797600-68798200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr5:68797600-68798200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:68797600-68798200	Active TSS	A549	lung

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