Variant report

Variant	rs7978386
Chromosome Location	chr12:122466107-122466108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122235746..122237932-chr12:122463152..122466660,3	K562	blood:
2	chr12:122465918..122468766-chr12:122476959..122479262,2	K562	blood:
3	chr12:122356506..122358944-chr12:122464672..122467378,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10431199	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840642	0.95[EUR][1000 genomes]
rs11043255	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043263	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11043277	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11043285	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11043286	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11043290	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11043292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043295	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829607	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230823	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34768683	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4069668	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56040016	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56122558	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56142842	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58326739	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59922210	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137708	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7138296	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73415674	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73415687	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73415696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961660	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7971538	0.95[EUR][1000 genomes];1.00[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122461600-122466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:122461600-122467200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:122461800-122473200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:122461800-122476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:122462000-122473200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:122462000-122473400	Weak transcription	Primary T cells from cord blood	blood
8	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:122462200-122466200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:122462200-122466200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:122462200-122466800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:122462200-122469200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:122462200-122469600	Weak transcription	Gastric	stomach
14	chr12:122462200-122472800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:122462200-122473000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:122462200-122473200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:122462200-122473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:122462200-122474200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:122462200-122489000	Weak transcription	HUVEC	blood vessel
20	chr12:122462400-122466200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:122462400-122466400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:122462400-122466600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:122462400-122466600	Weak transcription	Spleen	Spleen
24	chr12:122462400-122467400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:122462400-122467600	Weak transcription	Ovary	ovary
26	chr12:122462400-122467800	Weak transcription	NHDF-Ad	bronchial
27	chr12:122462400-122468000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:122462400-122469400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:122462400-122470000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:122462400-122473200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:122462400-122473200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:122462400-122473200	Weak transcription	Aorta	Aorta
33	chr12:122462400-122473200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:122462400-122477800	Weak transcription	Fetal Kidney	kidney
35	chr12:122462400-122481800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:122462400-122489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:122462400-122490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:122462400-122492200	Weak transcription	Stomach Mucosa	stomach
39	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix
40	chr12:122462600-122466400	Weak transcription	Fetal Heart	heart
41	chr12:122462600-122466400	Weak transcription	A549	lung
42	chr12:122462600-122466800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:122462600-122467000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:122462600-122467400	Weak transcription	Fetal Intestine Large	intestine
45	chr12:122462600-122468000	Genic enhancers	Fetal Thymus	thymus
46	chr12:122462600-122468400	Weak transcription	Fetal Stomach	stomach
47	chr12:122462600-122468600	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:122462600-122478000	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:122462800-122466200	Weak transcription	Fetal Brain Male	brain
50	chr12:122462800-122467000	Weak transcription	Liver	Liver

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