Variant report

Variant	rs12751508
Chromosome Location	chr1:197646544-197646545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197644483..197647407-chr1:197649632..197652293,2	K562	blood:
2	chr1:197645784..197649649-chr1:197651122..197654150,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12733235	1.00[ASN][1000 genomes]
rs12746503	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749423	1.00[ASN][1000 genomes]
rs34780947	1.00[ASN][1000 genomes]
rs36077246	1.00[ASN][1000 genomes]
rs71633809	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12751508	DENND1B	cis	brain	BrainEAC

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197640800-197647000	Weak transcription	Small Intestine	intestine
2	chr1:197640800-197657600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:197642800-197646800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:197643800-197646800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:197644000-197656000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:197645000-197651800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:197645000-197652600	Weak transcription	Left Ventricle	heart
8	chr1:197645200-197646600	Enhancers	K562	blood
9	chr1:197645200-197647000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:197645200-197661000	Weak transcription	Esophagus	oesophagus
11	chr1:197645400-197646600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:197645400-197647000	Weak transcription	Right Atrium	heart
13	chr1:197645400-197655600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:197645600-197646800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:197645600-197646800	Weak transcription	Liver	Liver
16	chr1:197645600-197647000	Weak transcription	Dnd41	blood
17	chr1:197645600-197647600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:197645600-197650600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:197645600-197657400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:197646200-197647200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:197646400-197652800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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