Variant report

Variant	rs73295812
Chromosome Location	chr12:32461143-32461144
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	chr12:32459018..32461823-chr12:32467009..32469131,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12321268	0.83[EUR][1000 genomes]
rs191257	0.83[EUR][1000 genomes]
rs28514337	0.83[EUR][1000 genomes]
rs325433	0.86[EUR][1000 genomes]
rs325434	0.86[EUR][1000 genomes]
rs325435	0.83[EUR][1000 genomes]
rs34447944	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55686847	0.83[EUR][1000 genomes]
rs56141196	0.86[EUR][1000 genomes]
rs56144247	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235810	0.83[EUR][1000 genomes]
rs56386122	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73295804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295814	0.82[AFR][1000 genomes]
rs73295822	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970001	0.83[EUR][1000 genomes]
rs7970425	0.83[EUR][1000 genomes]
rs7970657	0.83[EUR][1000 genomes]
rs7973680	0.83[EUR][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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32427000-32463000	Weak transcription	NHLF	lung
2	chr12:32427200-32463000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:32443600-32461200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:32443600-32463200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:32443600-32465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:32443800-32464600	Weak transcription	NHDF-Ad	bronchial
7	chr12:32443800-32464800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:32443800-32480400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:32444200-32465000	Weak transcription	Hela-S3	cervix
10	chr12:32445400-32464000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:32445600-32463600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:32445800-32464800	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:32446000-32461600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:32447000-32463000	Weak transcription	Brain Germinal Matrix	brain
15	chr12:32447400-32463000	Weak transcription	Fetal Thymus	thymus
16	chr12:32447600-32465000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:32448200-32463000	Weak transcription	HUVEC	blood vessel
18	chr12:32448400-32463200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:32448600-32462600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:32449000-32463000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:32449200-32480400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:32449600-32490200	Weak transcription	HSMMtube	muscle
23	chr12:32449800-32462400	Weak transcription	Fetal Intestine Large	intestine
24	chr12:32450000-32462800	Weak transcription	Pancreas	Pancrea
25	chr12:32450200-32464800	Weak transcription	Adipose Nuclei	Adipose
26	chr12:32450200-32464800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:32450400-32462800	Weak transcription	Fetal Brain Female	brain
28	chr12:32450400-32480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:32452400-32463000	Weak transcription	Small Intestine	intestine
30	chr12:32452400-32463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:32452600-32462800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:32452800-32465000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:32453000-32463200	Weak transcription	Right Atrium	heart
34	chr12:32454400-32462000	Weak transcription	Lung	lung
35	chr12:32454400-32463000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:32454400-32463000	Weak transcription	A549	lung
37	chr12:32454800-32462800	Weak transcription	Left Ventricle	heart
38	chr12:32454800-32465000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:32455200-32480400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:32455600-32464600	Weak transcription	GM12878-XiMat	blood
41	chr12:32456000-32463800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:32456400-32480400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:32456800-32462800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:32456800-32463000	Weak transcription	Brain Angular Gyrus	brain
45	chr12:32457200-32494400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:32457400-32463000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:32457600-32463200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:32458000-32463000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:32458400-32461200	Strong transcription	HSMM	muscle
50	chr12:32458600-32461200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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