Variant report

Variant	rs61954405
Chromosome Location	chr12:122832709-122832710
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	chr12:122828835..122831048-chr12:122832241..122834202,2	MCF-7	breast:
2	chr12:122832353..122835209-chr12:122882873..122885371,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10846839	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10846854	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11057562	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11057787	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057801	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11057810	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11057832	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057894	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11057934	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11058001	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11058009	0.81[EUR][1000 genomes]
rs11058010	0.84[EUR][1000 genomes]
rs11058043	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058062	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11058064	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11058099	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058143	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058144	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058159	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058186	0.82[EUR][1000 genomes]
rs11058206	0.80[AMR][1000 genomes]
rs12229152	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12229345	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12424715	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12427143	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12427421	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173581	0.80[AMR][1000 genomes]
rs3817012	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4758661	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4758672	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758694	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4758697	0.82[EUR][1000 genomes]
rs56861120	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56863652	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58062133	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58766840	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58853108	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61954399	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61954416	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61954418	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61954421	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61954422	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61954424	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61954425	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61954427	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61954441	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61954442	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61954447	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61954450	0.82[EUR][1000 genomes]
rs8181750	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs882969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122775600-122833600	Strong transcription	Liver	Liver
2	chr12:122791200-122841600	Strong transcription	Placenta	Placenta
3	chr12:122804200-122839000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:122812800-122839400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:122812800-122839400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:122812800-122844000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:122812800-122850600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:122813000-122839400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:122818200-122838200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:122818400-122852800	Weak transcription	Stomach Mucosa	stomach
11	chr12:122818600-122837000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:122818600-122844200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:122819600-122835200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:122819600-122835800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:122819600-122837000	Weak transcription	Thymus	Thymus
16	chr12:122819600-122839200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:122819800-122835600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:122819800-122837000	Weak transcription	Colonic Mucosa	Colon
19	chr12:122819800-122837400	Weak transcription	Small Intestine	intestine
20	chr12:122820000-122835400	Weak transcription	Dnd41	blood
21	chr12:122820200-122833400	Weak transcription	HepG2	liver
22	chr12:122820200-122835000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:122820200-122839400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:122821400-122835400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:122822400-122837000	Weak transcription	GM12878-XiMat	blood
26	chr12:122823000-122840200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:122823200-122839400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:122823800-122834200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:122824000-122834400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:122824400-122833600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:122825800-122833200	Weak transcription	K562	blood
32	chr12:122825800-122839200	Weak transcription	Fetal Kidney	kidney
33	chr12:122826000-122834400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:122826000-122837000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:122826200-122834600	Weak transcription	Fetal Thymus	thymus
36	chr12:122826200-122836800	Weak transcription	Psoas Muscle	Psoas
37	chr12:122826400-122834600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:122827200-122834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:122827200-122834000	Weak transcription	Hela-S3	cervix
40	chr12:122827200-122834600	Weak transcription	Fetal Lung	lung
41	chr12:122827200-122835000	Weak transcription	NH-A	brain
42	chr12:122827200-122837000	Weak transcription	Right Ventricle	heart
43	chr12:122827200-122837000	Weak transcription	Spleen	Spleen
44	chr12:122828800-122841200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:122829000-122834600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:122829200-122832800	Strong transcription	NHDF-Ad	bronchial
47	chr12:122829200-122834400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:122829800-122837000	Weak transcription	HMEC	breast
49	chr12:122830200-122834600	Strong transcription	Osteobl	bone
50	chr12:122830400-122834800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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