Variant report

Variant	rs12538823
Chromosome Location	chr7:150912750-150912751
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150893587..150895829-chr7:150910785..150913115,2	K562	blood:
2	chr7:150912422..150915257-chr7:150928620..150930515,2	MCF-7	breast:
3	chr7:150910419..150913240-chr7:151061501..151064470,2	K562	blood:
4	chr7:150905577..150911406-chr7:150912646..150916801,5	MCF-7	breast:
5	chr7:150908780..150913504-chr7:150916695..150920010,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033100	Chromatin interaction
ENSG00000183016	Chromatin interaction
ENSG00000033050	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1065071	1.00[ASN][1000 genomes]
rs10952299	1.00[CHB][hapmap]
rs11770520	1.00[CHB][hapmap]
rs12113924	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12531871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532489	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12536244	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13227935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13239059	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13239247	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1563636	1.00[ASN][1000 genomes]
rs219235	1.00[JPT][hapmap]
rs34129956	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34163999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34770061	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821030	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35041510	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35093688	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35292078	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35302282	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35746260	0.90[AMR][1000 genomes]
rs35833042	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748098	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3800794	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs432519	1.00[CHB][hapmap]
rs55968735	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66608097	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67128841	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6967282	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7784344	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7786151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150907600-150922600	Strong transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:150907800-150922200	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:150908000-150922600	Strong transcription	Brain Cingulate Gyrus	brain
4	chr7:150908000-150922800	Strong transcription	Brain Hippocampus Middle	brain
5	chr7:150908200-150922600	Strong transcription	Primary T cells from cord blood	blood
6	chr7:150908400-150922200	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr7:150908400-150923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:150908600-150922200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:150908600-150922400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:150908600-150922400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:150908800-150917000	Strong transcription	NHEK	skin
12	chr7:150908800-150920800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:150908800-150921800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:150908800-150922000	Strong transcription	Primary B cells from cord blood	blood
15	chr7:150908800-150922200	Strong transcription	Lung	lung
16	chr7:150908800-150922400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:150908800-150922400	Strong transcription	Fetal Intestine Small	intestine
18	chr7:150908800-150922600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:150908800-150922600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:150908800-150922800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:150908800-150923000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:150908800-150923000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr7:150909000-150922200	Strong transcription	Thymus	Thymus
24	chr7:150909000-150922400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:150909000-150922600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:150909000-150923000	Strong transcription	Fetal Muscle Leg	muscle
27	chr7:150909200-150921600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:150909200-150922000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:150909200-150922200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr7:150909200-150922200	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr7:150909200-150922200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:150909200-150922200	Strong transcription	Brain Substantia Nigra	brain
33	chr7:150909200-150922200	Strong transcription	GM12878-XiMat	blood
34	chr7:150909200-150922400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:150909200-150922400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:150909200-150922400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:150909200-150922400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr7:150909200-150922400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:150909200-150922600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:150909200-150922600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:150909200-150922600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr7:150909200-150922600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:150909200-150922600	Strong transcription	K562	blood
44	chr7:150909200-150922800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:150909200-150922800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:150909200-150922800	Strong transcription	Fetal Stomach	stomach
47	chr7:150909200-150923000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:150909400-150916200	Strong transcription	Fetal Thymus	thymus
49	chr7:150909400-150922000	Strong transcription	Fetal Brain Female	brain
50	chr7:150909400-150922400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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