Variant report

Variant	rs7134005
Chromosome Location	chr12:63175311-63175312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62995127..63000683-chr12:63174450..63183073,15	MCF-7	breast:
2	chr12:63174127..63177052-chr12:63177442..63179334,2	K562	blood:

Variant related genes	Relation type
ENSG00000221949	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11174642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174644	0.94[EUR][1000 genomes]
rs11174645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs11174646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11838276	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs17098298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17098311	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17098313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17098314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17120354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2652031	0.82[CEU][hapmap]
rs2663961	0.82[CEU][hapmap]
rs500505	0.82[CEU][hapmap]
rs506821	0.82[CEU][hapmap]
rs535206	0.82[CEU][hapmap]
rs593350	0.85[EUR][1000 genomes]
rs60309222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs642388	0.82[CEU][hapmap]
rs7303205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:63161400-63180000	Weak transcription	Aorta	Aorta
3	chr12:63161800-63179400	Weak transcription	Brain Angular Gyrus	brain
4	chr12:63163600-63178400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:63164800-63177200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:63164800-63177600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:63164800-63177800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:63165600-63182000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:63166000-63177200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:63166600-63175400	Weak transcription	A549	lung
11	chr12:63166600-63177800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:63166600-63179600	Weak transcription	NHLF	lung
13	chr12:63167000-63177800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:63167800-63177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:63168200-63180000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:63168400-63177800	Weak transcription	Left Ventricle	heart
17	chr12:63169200-63177800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:63169600-63177800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:63171400-63180000	Weak transcription	Colonic Mucosa	Colon
20	chr12:63171400-63180000	Weak transcription	Fetal Intestine Large	intestine
21	chr12:63172200-63177800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:63173400-63175600	Enhancers	Fetal Thymus	thymus
23	chr12:63174800-63175400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:63174800-63175600	Strong transcription	Fetal Intestine Small	intestine
25	chr12:63174800-63177200	Weak transcription	HepG2	liver
26	chr12:63174800-63182800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:63175000-63175400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:63175000-63175600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:63175000-63176200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:63175000-63179800	Weak transcription	Spleen	Spleen
31	chr12:63175200-63175600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:63175200-63193600	Weak transcription	Gastric	stomach
33	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea

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