Variant report

Variant	rs13240921
Chromosome Location	chr7:19959995-19959996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MACC1-1	chr7:19959489-19960253	NONHSAT119395

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13222805	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238182	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17142207	0.81[EUR][1000 genomes]
rs17453222	0.85[EUR][1000 genomes]
rs34232728	0.81[EUR][1000 genomes]
rs34315480	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34359299	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34811148	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34976267	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36191174	0.81[EUR][1000 genomes]
rs36198836	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6953958	0.85[EUR][1000 genomes]
rs6955046	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6968110	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73072750	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv1847477	chr7:19778086-19970584	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv887826	chr7:19816240-20033899	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1844137	chr7:19862221-19970584	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
7	nsv1027445	chr7:19947297-20211733	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13240921	SP8	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19952000-19960000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:19954800-19973000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:19956200-19960200	Weak transcription	NH-A	brain
4	chr7:19956400-19988000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:19958400-19960400	Enhancers	NHEK	skin
6	chr7:19958600-19960000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:19958600-19960800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:19958600-19961200	Enhancers	Fetal Lung	lung
9	chr7:19958800-19960000	Enhancers	Fetal Stomach	stomach
10	chr7:19959000-19960400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:19959000-19960800	Enhancers	HUVEC	blood vessel
12	chr7:19959200-19960200	Enhancers	Colon Smooth Muscle	Colon
13	chr7:19959400-19960000	Enhancers	Fetal Brain Male	brain
14	chr7:19959400-19960400	Enhancers	Fetal Muscle Leg	muscle
15	chr7:19959400-19960400	Enhancers	HSMM	muscle
16	chr7:19959400-19960600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:19959400-19960800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:19959400-19960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:19959600-19960000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:19959600-19960400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:19959600-19960400	Enhancers	Stomach Smooth Muscle	stomach
22	chr7:19959600-19961200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:19959800-19960000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:19959800-19960000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:19959800-19960400	Enhancers	Ovary	ovary
26	chr7:19959800-19960600	Enhancers	NHLF	lung
27	chr7:19959800-19960800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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