Variant report

Variant	rs978136
Chromosome Location	chr13:40126462-40126463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:40126439..40128826-chr13:40132731..40135327,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12853787	0.85[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs1548273	0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs17060288	0.88[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2324348	0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs34490304	0.96[EUR][1000 genomes]
rs3764073	0.86[JPT][hapmap]
rs56103901	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56213801	1.00[ASN][1000 genomes]
rs57628663	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61432896	1.00[ASN][1000 genomes]
rs61954148	1.00[ASN][1000 genomes]
rs61956463	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61956464	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61956467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71423201	0.96[EUR][1000 genomes]
rs7317222	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7334762	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7334879	1.00[CEU][hapmap]
rs74044105	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74046534	1.00[ASN][1000 genomes]
rs74046537	1.00[ASN][1000 genomes]
rs74046538	1.00[ASN][1000 genomes]
rs74046541	1.00[ASN][1000 genomes]
rs74046546	1.00[ASN][1000 genomes]
rs74046552	0.98[ASN][1000 genomes]
rs74046553	0.96[ASN][1000 genomes]
rs74046554	1.00[ASN][1000 genomes]
rs74046555	1.00[ASN][1000 genomes]
rs74046556	1.00[ASN][1000 genomes]
rs7983392	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7985820	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7985865	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7987557	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9532392	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv523936	chr13:40119410-40128845	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:40111200-40133200	Weak transcription	Aorta	Aorta
3	chr13:40111400-40128200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:40111600-40128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:40113800-40128600	Weak transcription	Ovary	ovary
6	chr13:40114000-40131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:40114400-40136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:40115400-40133200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:40115600-40133600	Weak transcription	Osteobl	bone
10	chr13:40117000-40130000	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:40117000-40130400	Weak transcription	HSMMtube	muscle
12	chr13:40117800-40128600	Weak transcription	Right Atrium	heart
13	chr13:40117800-40131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:40119800-40130200	Weak transcription	Fetal Heart	heart
15	chr13:40120000-40131600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:40121400-40136200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:40123000-40131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:40123200-40128600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:40123200-40128600	Weak transcription	HMEC	breast
20	chr13:40124000-40126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:40125000-40131600	Weak transcription	Fetal Lung	lung
22	chr13:40125400-40133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:40125600-40126800	Weak transcription	Left Ventricle	heart
24	chr13:40125600-40131400	Weak transcription	HSMM	muscle
25	chr13:40125600-40133000	Weak transcription	Lung	lung
26	chr13:40125800-40130000	Weak transcription	Adipose Nuclei	Adipose
27	chr13:40126000-40128800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:40126400-40126600	Enhancers	Right Ventricle	heart
29	chr13:40126400-40126800	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr13:40126400-40127000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:40126400-40127000	Enhancers	Brain Angular Gyrus	brain
32	chr13:40126400-40127000	Strong transcription	NHDF-Ad	bronchial
33	chr13:40126400-40128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:40126400-40137200	Weak transcription	NHLF	lung

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