Variant report

Variant	rs7608241
Chromosome Location	chr2:31353606-31353607
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	EBF1	chr2:31353452-31353702	GM12878	blood:	n/a	chr2:31353584-31353597 chr2:31353584-31353595 chr2:31353585-31353595
2	EBF1	chr2:31353403-31353782	GM12878	blood:	n/a	chr2:31353584-31353597 chr2:31353584-31353595 chr2:31353585-31353595

Variant related genes	Relation type
GALNT14	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56104208	0.89[AFR][1000 genomes]
rs56116538	0.89[AFR][1000 genomes]
rs73921508	0.89[AFR][1000 genomes]
rs73921509	0.89[AFR][1000 genomes]
rs7560397	0.91[AFR][1000 genomes]
rs7604882	0.89[AFR][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv214007	chr2:31353601-31353612	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31347800-31358800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:31349400-31354400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:31349600-31355000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:31349600-31355600	Weak transcription	HMEC	breast
5	chr2:31349800-31354400	Weak transcription	NHEK	skin
6	chr2:31349800-31355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:31349800-31357200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:31350000-31354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:31350000-31355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:31350000-31359600	Weak transcription	Pancreas	Pancrea
11	chr2:31350200-31355800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:31350800-31354000	Enhancers	Fetal Brain Male	brain
13	chr2:31351600-31354000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:31351600-31358600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:31351600-31359600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:31351800-31355400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:31352000-31353800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:31352200-31354400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:31352400-31353800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:31352400-31356000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:31352600-31354200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:31352600-31355600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:31353000-31356000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:31353200-31354200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:31353200-31354400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:31353200-31354400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:31353200-31355200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:31353400-31353800	Weak transcription	Fetal Brain Female	brain
29	chr2:31353400-31354400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:31353400-31354400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:31353400-31358600	Enhancers	Brain Germinal Matrix	brain
32	chr2:31353400-31359600	Weak transcription	Spleen	Spleen

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