Variant report

Variant	rs7300539
Chromosome Location	chr12:105162181-105162182
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105146747..105148409-chr12:105161769..105164567,2	K562	blood:
2	chr12:105154675..105157648-chr12:105161416..105163979,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17036430	1.00[AMR][1000 genomes]
rs56172532	1.00[AMR][1000 genomes]
rs56302664	1.00[AMR][1000 genomes]
rs56745471	1.00[AMR][1000 genomes]
rs56747454	1.00[AMR][1000 genomes]
rs56784841	1.00[AMR][1000 genomes]
rs57845641	1.00[AMR][1000 genomes]
rs59027081	1.00[AMR][1000 genomes]
rs59568349	1.00[AMR][1000 genomes]
rs59751889	1.00[AMR][1000 genomes]
rs59781620	0.97[AFR][1000 genomes]
rs61274096	1.00[AMR][1000 genomes]
rs7305882	1.00[AMR][1000 genomes]
rs7980760	1.00[AMR][1000 genomes]
rs9669688	1.00[AMR][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105145600-105162800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:105151600-105162800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:105152400-105162600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:105154400-105162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:105156200-105163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:105157400-105162600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:105157400-105162600	Weak transcription	NHEK	skin
8	chr12:105157400-105162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:105157600-105162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:105160800-105163400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:105160800-105163400	Enhancers	Brain Germinal Matrix	brain
12	chr12:105161000-105163000	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:105161200-105163400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:105161200-105163400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:105161200-105163400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:105161400-105162800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:105161400-105163400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:105161400-105163400	Enhancers	Fetal Brain Male	brain
19	chr12:105161600-105163400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:105161800-105162200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:105161800-105162200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:105161800-105162200	Enhancers	Ovary	ovary
23	chr12:105161800-105163400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:105161800-105163600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:105161800-105163600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:105162000-105163400	Enhancers	HMEC	breast

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