Variant report

Variant	rs34599926
Chromosome Location	chr7:127260953-127260954
allele	C/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	SPI1	chr7:127260833-127261352	HL-60	blood:	n/a	n/a
2	RAD21	chr7:127260147-127261177	H1-hESC	embryonic stem cell:	n/a	chr7:127260304-127260313
3	CTBP2	chr7:127260032-127261276	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr7:127260901-127261213	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr7:127260118-127261278	H1-hESC	embryonic stem cell:	n/a	chr7:127260728-127260741
6	ZNF143	chr7:127260116-127261167	H1-hESC	embryonic stem cell:	n/a	chr7:127260765-127260783
7	YY1	chr7:127259966-127261235	H1-hESC	embryonic stem cell:	n/a	chr7:127260068-127260088 chr7:127260072-127260080 chr7:127260054-127260065 chr7:127260069-127260088 chr7:127260730-127260741 chr7:127260068-127260082

No.	Distal block	Cell Line	Cell type
1	chr7:127227928..127230816-chr7:127259483..127262295,3	MCF-7	breast:
2	chr7:127255591..127258353-chr7:127260203..127261869,3	K562	blood:
3	chr7:127259658..127262602-chr7:127265191..127267100,2	K562	blood:
4	chr7:127259118..127261158-chr7:127265600..127267566,2	K562	blood:

Variant related genes	Relation type
PAX4	TF binding region
ENSG00000004059	Chromatin interaction
ENSG00000106331	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10487484	0.81[ASN][1000 genomes]
rs10487494	0.96[ASN][1000 genomes]
rs12536698	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706803	0.89[ASN][1000 genomes]
rs13227138	0.89[ASN][1000 genomes]
rs13235029	0.89[ASN][1000 genomes]
rs13244426	0.96[ASN][1000 genomes]
rs13247976	0.96[ASN][1000 genomes]
rs13309235	0.81[ASN][1000 genomes]
rs1419408	0.82[ASN][1000 genomes]
rs17660187	0.89[ASN][1000 genomes]
rs17662800	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17718364	0.81[AFR][1000 genomes]
rs17730185	0.85[ASN][1000 genomes]
rs17730294	0.85[ASN][1000 genomes]
rs182750	0.91[EUR][1000 genomes]
rs2272374	0.81[AFR][1000 genomes]
rs33973710	0.92[ASN][1000 genomes]
rs34121113	0.89[ASN][1000 genomes]
rs34188289	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34195583	0.89[ASN][1000 genomes]
rs34211107	0.96[ASN][1000 genomes]
rs34365152	0.96[ASN][1000 genomes]
rs34388330	0.96[ASN][1000 genomes]
rs34814259	0.89[ASN][1000 genomes]
rs34844752	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34881339	0.81[ASN][1000 genomes]
rs35120956	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35144279	0.89[ASN][1000 genomes]
rs35528098	0.96[ASN][1000 genomes]
rs35640048	0.85[ASN][1000 genomes]
rs35872516	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs36046498	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3752619	0.89[ASN][1000 genomes]
rs3757785	0.81[AFR][1000 genomes]
rs3808111	0.85[ASN][1000 genomes]
rs3808115	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs58451280	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62468943	0.96[ASN][1000 genomes]
rs62481380	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62481384	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62483172	0.96[ASN][1000 genomes]
rs6957054	0.89[ASN][1000 genomes]
rs6964793	0.96[ASN][1000 genomes]
rs746238	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7808161	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7811506	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127259400-127261400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:127259600-127261400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr7:127259800-127261200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:127260000-127261400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:127260200-127261000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr7:127260200-127261000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:127260200-127261000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:127260200-127261000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:127260200-127261000	Active TSS	Brain Anterior Caudate	brain
10	chr7:127260200-127261200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:127260200-127261200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:127260200-127261200	Enhancers	Spleen	Spleen
13	chr7:127260200-127261400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:127260200-127261400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr7:127260400-127261000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr7:127260600-127261000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:127260600-127261400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:127260800-127261000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:127260800-127261000	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr7:127260800-127261200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:127260800-127261200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:127260800-127261200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr7:127260800-127261200	Bivalent Enhancer	Fetal Thymus	thymus
24	chr7:127260800-127261400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:127260800-127261400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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