Variant report

Variant	rs7972634
Chromosome Location	chr12:105838316-105838317
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:2986046..2986877-chr12:105837647..105838612,2	Hela-S3	cervix:
2	chr12:105837457..105842094-chr12:106531449..106535531,7	MCF-7	breast:
3	chr12:105837444..105839027-chr12:106252891..106255471,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111206	Chromatin interaction
ENSG00000074590	Chromatin interaction
ENSG00000078246	Chromatin interaction
ENSG00000171792	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10746034	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778406	0.92[EUR][1000 genomes]
rs1358220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1821233	0.84[ASN][1000 genomes]
rs2082371	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2116678	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888847	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964136	0.92[AFR][1000 genomes]
rs7953438	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955724	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965043	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8181668	0.84[ASN][1000 genomes]
rs9971736	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045689	chr12:105836970-105879110	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105836600-105840600	Enhancers	HSMMtube	muscle
2	chr12:105836800-105840200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:105837000-105839600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:105837000-105840400	Enhancers	HSMM	muscle
5	chr12:105837200-105840000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:105837400-105838600	Flanking Active TSS	Hela-S3	cervix
7	chr12:105837400-105838800	Flanking Active TSS	A549	lung
8	chr12:105837400-105839200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:105837400-105840400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:105837400-105840600	Enhancers	HUVEC	blood vessel
11	chr12:105837600-105840000	Enhancers	Fetal Muscle Leg	muscle
12	chr12:105837600-105840400	Enhancers	NHEK	skin
13	chr12:105837800-105838800	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr12:105837800-105839200	Enhancers	NH-A	brain
15	chr12:105837800-105840200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:105837800-105840400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:105838000-105838800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:105838000-105838800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:105838000-105840000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:105838000-105840000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:105838200-105838400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:105838200-105838400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:105838200-105838400	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr12:105838200-105839800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:105838200-105839800	Weak transcription	Placenta	Placenta
26	chr12:105838200-105840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:105838200-105840000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:105838200-105840000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:105838200-105840000	Enhancers	Fetal Heart	heart
30	chr12:105838200-105840200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:105838200-105840400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:105838200-105840400	Enhancers	HMEC	breast
33	chr12:105838200-105845400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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