Variant report

Variant	rs333985
Chromosome Location	chr2:179134960-179134961
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179133771..179135468-chr2:179137443..179139598,2	MCF-7	breast:
2	chr2:179133115..179135178-chr2:179137086..179139521,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs333989	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[ASN][1000 genomes]
rs836882	0.85[MEX][hapmap];0.92[TSI][hapmap]

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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179111200-179137400	Weak transcription	Right Atrium	heart
2	chr2:179126000-179136600	Weak transcription	Aorta	Aorta
3	chr2:179130800-179136000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:179131000-179135000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:179131200-179136400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:179131200-179136600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:179131200-179136600	Weak transcription	HSMM	muscle
8	chr2:179131400-179135600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:179131400-179136600	Weak transcription	HSMMtube	muscle
10	chr2:179132600-179136600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:179132800-179142400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:179133200-179135800	Enhancers	Psoas Muscle	Psoas
13	chr2:179133200-179136600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:179133800-179136000	Weak transcription	NHEK	skin
15	chr2:179133800-179136400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:179133800-179136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:179133800-179142400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:179133800-179146800	Weak transcription	Esophagus	oesophagus
19	chr2:179134400-179135000	Enhancers	Fetal Muscle Leg	muscle
20	chr2:179134400-179135000	Enhancers	Left Ventricle	heart
21	chr2:179134600-179135000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:179134600-179135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:179134600-179135200	Flanking Active TSS	K562	blood
24	chr2:179134600-179135400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:179134600-179135600	Weak transcription	HMEC	breast
26	chr2:179134600-179135800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:179134600-179136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:179134800-179135000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:179134800-179135000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:179134800-179135400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:179134800-179137400	Weak transcription	Right Ventricle	heart
32	chr2:179134800-179137600	Enhancers	HUES48 Cell Line	embryonic stem cell

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