Variant report

Variant	rs1696348
Chromosome Location	chr12:123211817-123211818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123210591..123212657-chr12:123213454..123215681,5	MCF-7	breast:
2	chr12:123210768..123212595-chr12:123213230..123215441,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196917	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs513567	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525017	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs527902	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348872	chr12:123192296-123213461	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123201200-123214600	Weak transcription	Spleen	Spleen
2	chr12:123205200-123214600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:123207400-123214200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:123207800-123214800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:123208200-123214200	Weak transcription	Fetal Thymus	thymus
6	chr12:123208200-123215200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:123208200-123217000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:123209600-123212000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:123209600-123212000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:123209600-123213000	Enhancers	HepG2	liver
11	chr12:123209600-123213800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:123210200-123214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:123211000-123212000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:123211000-123212200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:123211000-123212400	Enhancers	HMEC	breast
16	chr12:123211000-123214200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:123211000-123214200	Weak transcription	Gastric	stomach
18	chr12:123211000-123214800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:123211000-123214800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:123211000-123215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:123211000-123215000	Weak transcription	A549	lung
22	chr12:123211200-123212000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:123211200-123212000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr12:123211200-123212400	Weak transcription	HUVEC	blood vessel
25	chr12:123211200-123212600	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:123211200-123212800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:123211200-123213200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:123211200-123213800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:123211200-123214400	Weak transcription	Primary T cells from cord blood	blood
30	chr12:123211200-123214400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:123211200-123214600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:123211200-123214600	Weak transcription	GM12878-XiMat	blood
33	chr12:123211200-123214800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:123211200-123215000	Weak transcription	Fetal Intestine Small	intestine
35	chr12:123211200-123215200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:123211400-123213600	Weak transcription	Placenta	Placenta
37	chr12:123211600-123212600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr12:123211600-123212600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr12:123211800-123214000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:123211800-123214800	Weak transcription	NHEK	skin
41	chr12:123211800-123216000	Weak transcription	Primary B cells from cord blood	blood

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