Variant report

Variant	rs12526138
Chromosome Location	chr6:38257857-38257858
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38256129..38257885-chr6:38259661..38261531,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12524219	1.00[AFR][1000 genomes]
rs12529300	1.00[AFR][1000 genomes]
rs12529640	1.00[AFR][1000 genomes]
rs16890522	1.00[AFR][1000 genomes]
rs4711526	1.00[AFR][1000 genomes]
rs4711530	1.00[AFR][1000 genomes]
rs4714127	1.00[AFR][1000 genomes]
rs4714137	1.00[AFR][1000 genomes]
rs4714142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62397007	1.00[AFR][1000 genomes]
rs62397015	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38224400-38267600	Weak transcription	Primary T cells from cord blood	blood
2	chr6:38226400-38258000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:38238400-38258200	Weak transcription	Left Ventricle	heart
4	chr6:38238600-38258000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:38239400-38259200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:38241600-38258200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:38248400-38258400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:38249000-38258200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:38249200-38258000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:38249200-38258000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:38249200-38258400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:38249200-38275600	Weak transcription	Fetal Brain Male	brain
13	chr6:38250600-38258200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:38256000-38258400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:38256000-38263000	Weak transcription	Lung	lung
16	chr6:38256200-38258000	Weak transcription	Primary B cells from cord blood	blood
17	chr6:38256200-38258000	Weak transcription	Brain Angular Gyrus	brain
18	chr6:38256200-38258200	Weak transcription	Brain Substantia Nigra	brain
19	chr6:38256200-38258400	Weak transcription	Ovary	ovary
20	chr6:38256200-38258400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:38256400-38258000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:38256400-38258000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:38256400-38259000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:38257400-38258600	Enhancers	Fetal Heart	heart
25	chr6:38257600-38258600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:38257600-38258600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:38257600-38258600	Enhancers	Brain Anterior Caudate	brain
28	chr6:38257600-38259000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:38257800-38258200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:38257800-38258400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:38257800-38258400	Enhancers	Fetal Kidney	kidney
32	chr6:38257800-38258600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:38257800-38258600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:38257800-38258600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr6:38257800-38258800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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