Variant report

Variant	rs2787930
Chromosome Location	chr6:88416141-88416142
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	BATF	chr6:88415980-88416175	GM12878	blood:	n/a	chr6:88416078-88416089
2	JUND	chr6:88415995-88416921	K562	blood:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416540-88416551 chr6:88416718-88416730 chr6:88416543-88416550
3	GATA3	chr6:88415944-88417172	MCF-7	breast:	n/a	chr6:88416543-88416552
4	GATA3	chr6:88416103-88416892	SK-N-SH	brain:	n/a	chr6:88416543-88416552
5	JUND	chr6:88415756-88416935	SK-N-SH	brain:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416540-88416551 chr6:88416718-88416730 chr6:88416543-88416550
6	FOSL2	chr6:88415842-88416938	A549	lung:	n/a	chr6:88416542-88416551 chr6:88416540-88416552 chr6:88416542-88416550 chr6:88416541-88416550 chr6:88416718-88416730 chr6:88416543-88416550
7	GATA3	chr6:88416128-88417098	A549	lung:	n/a	chr6:88416543-88416552

No.	Distal block	Cell Line	Cell type
1	chr6:88415419..88418408-chr6:88419849..88421936,2	K562	blood:
2	chr6:88414869..88417780-chr6:88431598..88434041,2	K562	blood:
3	chr6:88415578..88418396-chr6:88423147..88424989,2	K562	blood:
4	chr6:88415099..88417482-chr6:88428698..88430339,2	MCF-7	breast:
5	chr6:88409819..88412210-chr6:88413851..88416889,3	MCF-7	breast:

Variant related genes	Relation type
AKIRIN2	TF binding region
ENSG00000135334	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2246113	0.82[EUR][1000 genomes]
rs2787934	0.90[ASN][1000 genomes]
rs7741825	0.83[EUR][1000 genomes]
rs9444530	0.83[EUR][1000 genomes]
rs9450779	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758068	chr6:88358988-88441473	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2759454	chr6:88358988-88441473	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2787930	SLC35A1	cis	multi-tissue	Pritchard
rs2787930	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88412800-88432600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:88413000-88416600	Weak transcription	Fetal Heart	heart
3	chr6:88413000-88416600	Weak transcription	HMEC	breast
4	chr6:88413000-88416800	Weak transcription	HSMM	muscle
5	chr6:88413000-88421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:88413200-88416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:88413200-88416600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:88413200-88416600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:88413200-88416600	Weak transcription	Hela-S3	cervix
10	chr6:88413200-88424200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:88414200-88417200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:88414800-88416200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:88415000-88416200	Enhancers	NHLF	lung
14	chr6:88415000-88417400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:88415400-88416600	Weak transcription	NH-A	brain
16	chr6:88415400-88416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:88415400-88417200	Enhancers	K562	blood
18	chr6:88415400-88417600	Enhancers	GM12878-XiMat	blood
19	chr6:88415400-88419800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:88415600-88416400	Enhancers	A549	lung
21	chr6:88415800-88417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:88416000-88416200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:88416000-88416400	Weak transcription	NHDF-Ad	bronchial
24	chr6:88416000-88416600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:88416000-88417400	Enhancers	Osteobl	bone

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