Variant report

Variant	rs7537908
Chromosome Location	chr1:78518939-78518940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78467898..78473745-chr1:78517606..78523860,12	K562	blood:
2	chr1:78468015..78471675-chr1:78515077..78519749,8	K562	blood:
3	chr1:78516143..78520503-chr1:78521696..78523741,3	K562	blood:
4	chr1:78518422..78519997-chr1:78524033..78526694,2	K562	blood:
5	chr1:78518697..78520503-chr1:78522151..78523964,2	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11162404	0.84[YRI][hapmap]
rs1166698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12086102	0.84[YRI][hapmap]
rs640935	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6424659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs6699769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6702939	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs7514180	0.81[AMR][1000 genomes]
rs9726525	0.86[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7537908	DNAJB4	Cis_1M	lymphoblastoid	RTeQTL
rs7537908	NEXN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78512600-78519800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:78513000-78521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:78513200-78520600	Weak transcription	Pancreas	Pancrea
4	chr1:78513600-78521200	Weak transcription	Stomach Mucosa	stomach
5	chr1:78513800-78520000	Weak transcription	HSMM	muscle
6	chr1:78514400-78519200	Weak transcription	Small Intestine	intestine
7	chr1:78515200-78519600	Weak transcription	HSMMtube	muscle
8	chr1:78515400-78521200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:78515400-78534200	Weak transcription	HepG2	liver
10	chr1:78517400-78519600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:78517400-78522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:78517600-78519200	Enhancers	Liver	Liver
13	chr1:78517600-78519600	Enhancers	HUVEC	blood vessel
14	chr1:78517600-78519800	Enhancers	Psoas Muscle	Psoas
15	chr1:78517800-78519000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:78517800-78521200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:78518200-78519000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:78518400-78519000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:78518600-78519000	Enhancers	Adipose Nuclei	Adipose
20	chr1:78518600-78519200	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:78518600-78519200	Genic enhancers	Fetal Intestine Large	intestine
22	chr1:78518600-78519200	Enhancers	Spleen	Spleen
23	chr1:78518600-78519400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:78518800-78519000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:78518800-78519200	Enhancers	Fetal Muscle Leg	muscle
26	chr1:78518800-78519200	Enhancers	Right Ventricle	heart
27	chr1:78518800-78519400	Enhancers	Placenta	Placenta
28	chr1:78518800-78519400	Enhancers	Left Ventricle	heart
29	chr1:78518800-78519400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:78518800-78519400	Enhancers	K562	blood

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