Variant report

Variant	rs7607657
Chromosome Location	chr2:31353121-31353122
allele	A/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	POLR2A	chr2:31352734-31353180	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
GALNT14	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1443717	0.94[EUR][1000 genomes]
rs17010751	1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010752	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751477	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs733501	1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73921552	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73921578	1.00[ASN][1000 genomes]
rs73921579	1.00[ASN][1000 genomes]
rs745524	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750185	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:38 , 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	chr2:31351800-31353400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:31351800-31355400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:31352000-31353800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:31352200-31354400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:31352400-31353200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:31352400-31353600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:31352400-31353800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:31352400-31356000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:31352600-31353200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:31352600-31353200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:31352600-31353400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:31352600-31353400	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr2:31352600-31354200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:31352600-31355600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:31352800-31353200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:31352800-31353400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr2:31352800-31353400	Enhancers	Fetal Brain Female	brain
33	chr2:31353000-31353400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:31353000-31353400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr2:31353000-31353400	Enhancers	Spleen	Spleen
36	chr2:31353000-31353600	Enhancers	Left Ventricle	heart
37	chr2:31353000-31353600	Enhancers	Right Ventricle	heart
38	chr2:31353000-31356000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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