Variant report

Variant	rs7134222
Chromosome Location	chr12:106506584-106506585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106499591..106503536-chr12:106504416..106508585,6	MCF-7	breast:
2	chr12:106506182..106509109-chr12:106524613..106526452,2	MCF-7	breast:
3	chr12:106504477..106507243-chr12:106513286..106514940,2	MCF-7	breast:
4	chr12:106476871..106479855-chr12:106504214..106506974,2	MCF-7	breast:
5	chr12:106500371..106501923-chr12:106505629..106508157,2	MCF-7	breast:
6	chr12:106505826..106508557-chr12:106531919..106534995,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs12297025	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297212	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316899	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12316927	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316982	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12317084	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7303616	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs919837	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7134222	TCP11L2	cis	parietal	SCAN
rs7134222	BTBD11	cis	parietal	SCAN
rs7134222	CKAP4	cis	parietal	SCAN
rs7134222	DRAM1	cis	parietal	SCAN
rs7134222	GLT8D2	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106493400-106512400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:106495600-106507200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr12:106498400-106507200	Weak transcription	Pancreas	Pancrea
4	chr12:106499600-106511400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:106499800-106507800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:106499800-106508400	Genic enhancers	HSMM	muscle
7	chr12:106500000-106507000	Enhancers	Adipose Nuclei	Adipose
8	chr12:106500000-106507400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:106500000-106510000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:106500200-106507400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:106500200-106510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:106500200-106514000	Enhancers	Liver	Liver
13	chr12:106500600-106507400	Enhancers	HepG2	liver
14	chr12:106500600-106508600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:106500600-106508600	Enhancers	Right Atrium	heart
16	chr12:106500800-106507600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:106500800-106510200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:106500800-106521800	Enhancers	Brain Angular Gyrus	brain
19	chr12:106501200-106516800	Enhancers	Right Ventricle	heart
20	chr12:106501400-106510400	Enhancers	Fetal Brain Female	brain
21	chr12:106502000-106507400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:106502200-106507000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:106502400-106507000	Enhancers	Stomach Smooth Muscle	stomach
24	chr12:106502400-106510000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:106502600-106509400	Weak transcription	Gastric	stomach
26	chr12:106502800-106507600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:106502800-106507600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:106503000-106507000	Weak transcription	Fetal Kidney	kidney
29	chr12:106503200-106507000	Enhancers	Brain Hippocampus Middle	brain
30	chr12:106503200-106508000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:106503600-106510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:106503800-106506800	Weak transcription	HUVEC	blood vessel
33	chr12:106503800-106507000	Weak transcription	Brain Germinal Matrix	brain
34	chr12:106504000-106508000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:106504200-106507800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:106504200-106524600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:106504400-106506600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:106504400-106509000	Enhancers	HMEC	breast
39	chr12:106504600-106507200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:106504600-106509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:106504800-106507200	Weak transcription	Colonic Mucosa	Colon
42	chr12:106504800-106529000	Enhancers	Left Ventricle	heart
43	chr12:106504800-106532400	Weak transcription	Spleen	Spleen
44	chr12:106505000-106507000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:106505000-106507200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:106505000-106507400	Weak transcription	Fetal Intestine Large	intestine
47	chr12:106505000-106508400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:106505000-106509600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:106505400-106507200	Enhancers	HSMMtube	muscle
50	chr12:106505400-106509400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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