Variant report

Variant	rs7570750
Chromosome Location	chr2:98642160-98642161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98640904..98642915-chr2:98701010..98703488,2	MCF-7	breast:
2	chr2:98635593..98638012-chr2:98640910..98643312,2	K562	blood:
3	chr2:98610702..98614249-chr2:98641205..98645622,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1699023	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1699028	0.82[ASN][1000 genomes]
rs298900	0.82[ASN][1000 genomes]
rs298902	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs298904	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs298905	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs298906	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs67425556	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7570750	ANKRD39	cis	parietal	SCAN
rs7570750	MRPL30	cis	cerebellum	SCAN
rs7570750	INPP4A	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98634000-98642400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:98637800-98643200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:98638000-98642600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:98638000-98644800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:98638000-98656600	Weak transcription	Right Atrium	heart
6	chr2:98638200-98642600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:98638200-98642600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:98638200-98642800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:98638200-98643000	Weak transcription	Colonic Mucosa	Colon
10	chr2:98638200-98643400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:98638200-98643400	Weak transcription	Left Ventricle	heart
12	chr2:98638200-98644000	Weak transcription	Placenta	Placenta
13	chr2:98638400-98644600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:98638800-98643400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:98639000-98642200	Weak transcription	Primary B cells from cord blood	blood
16	chr2:98639200-98642200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:98641600-98643000	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:98641800-98642200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:98641800-98642200	Weak transcription	Stomach Mucosa	stomach
20	chr2:98641800-98642200	Enhancers	GM12878-XiMat	blood
21	chr2:98642000-98642400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
22	chr2:98642000-98642600	Weak transcription	Psoas Muscle	Psoas
23	chr2:98642000-98642800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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