Variant report

Variant	rs4385975
Chromosome Location	chr12:32462682-32462683
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	chr12:32461768..32463542-chr12:32464006..32465889,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1055875	1.00[CHB][hapmap]
rs12321268	0.83[EUR][1000 genomes]
rs191257	0.83[EUR][1000 genomes]
rs28514337	0.83[EUR][1000 genomes]
rs325433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs325434	0.86[EUR][1000 genomes]
rs325435	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs34447944	0.95[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73295814	0.83[AFR][1000 genomes]
rs73295822	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970001	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7970425	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7970657	1.00[CEU][hapmap];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:82 , 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	chr12:32443600-32463200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:32443600-32465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:32443800-32464600	Weak transcription	NHDF-Ad	bronchial
6	chr12:32443800-32464800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:32443800-32480400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:32444200-32465000	Weak transcription	Hela-S3	cervix
9	chr12:32445400-32464000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:32445600-32463600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:32445800-32464800	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:32447000-32463000	Weak transcription	Brain Germinal Matrix	brain
13	chr12:32447400-32463000	Weak transcription	Fetal Thymus	thymus
14	chr12:32447600-32465000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:32448200-32463000	Weak transcription	HUVEC	blood vessel
16	chr12:32448400-32463200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:32449000-32463000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:32449200-32480400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:32449600-32490200	Weak transcription	HSMMtube	muscle
20	chr12:32450000-32462800	Weak transcription	Pancreas	Pancrea
21	chr12:32450200-32464800	Weak transcription	Adipose Nuclei	Adipose
22	chr12:32450200-32464800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:32450400-32462800	Weak transcription	Fetal Brain Female	brain
24	chr12:32450400-32480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:32452400-32463000	Weak transcription	Small Intestine	intestine
26	chr12:32452400-32463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:32452600-32462800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:32452800-32465000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:32453000-32463200	Weak transcription	Right Atrium	heart
30	chr12:32454400-32463000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:32454400-32463000	Weak transcription	A549	lung
32	chr12:32454800-32462800	Weak transcription	Left Ventricle	heart
33	chr12:32454800-32465000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:32455200-32480400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:32455600-32464600	Weak transcription	GM12878-XiMat	blood
36	chr12:32456000-32463800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:32456400-32480400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:32456800-32462800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:32456800-32463000	Weak transcription	Brain Angular Gyrus	brain
40	chr12:32457200-32494400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:32457400-32463000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:32457600-32463200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:32458000-32463000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:32459200-32462800	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:32459200-32464800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:32459200-32465000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:32459200-32480200	Weak transcription	Primary B cells from cord blood	blood
48	chr12:32459200-32480800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:32459400-32480600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:32459600-32462800	Weak transcription	Ovary	ovary

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