Variant report

Variant	rs7976256
Chromosome Location	chr12:116983996-116983997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:116983721-116984178	K562	blood:	n/a	chr12:116984005-116984015
2	RCOR1	chr12:116983714-116984252	K562	blood:	n/a	n/a
3	HDAC2	chr12:116983844-116984011	K562	blood:	n/a	n/a
4	EP300	chr12:116983724-116984028	K562	blood:	n/a	n/a
5	EGR1	chr12:116983899-116984139	K562	blood:	n/a	chr12:116984005-116984015 chr12:116984001-116984016 chr12:116984016-116984029 chr12:116984002-116984015 chr12:116984002-116984015 chr12:116984007-116984017 chr12:116984002-116984015 chr12:116983998-116984020
6	TBL1XR1	chr12:116983685-116984079	K562	blood:	n/a	n/a
7	CCNT2	chr12:116983685-116984146	K562	blood:	n/a	chr12:116984007-116984016 chr12:116984015-116984024
8	EGR1	chr12:116983822-116984144	K562	blood:	n/a	chr12:116984005-116984015 chr12:116984001-116984016 chr12:116984016-116984029 chr12:116984002-116984015 chr12:116984002-116984015 chr12:116984007-116984017 chr12:116984002-116984015 chr12:116983998-116984020
9	ARID3A	chr12:116983737-116984016	K562	blood:	n/a	n/a
10	JUND	chr12:116983727-116984061	K562	blood:	n/a	n/a
11	ZNF384	chr12:116983232-116984085	K562	blood:	n/a	n/a
12	ZBTB7A	chr12:116983912-116984077	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:116970149..116972924-chr12:116980569..116984138,3	K562	blood:
2	chr12:116967310..116968928-chr12:116982410..116984737,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258102	TF binding region
ENSG00000196668	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10774871	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774872	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10850662	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10850663	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068062	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068070	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068075	0.88[ASN][1000 genomes]
rs11609040	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11609872	0.86[ASN][1000 genomes]
rs11610226	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615960	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1394801	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1394802	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2047952	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2089222	0.87[ASN][1000 genomes]
rs2102294	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2893685	0.87[ASN][1000 genomes]
rs60521218	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6490075	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6490076	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297552	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300418	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7304300	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7315385	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7954181	0.91[ASN][1000 genomes]
rs7961538	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7969190	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7969566	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7972701	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv3451036	chr12:116983919-116985817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116973000-116986000	Weak transcription	Aorta	Aorta
2	chr12:116975600-116984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:116977600-116985400	Weak transcription	Placenta	Placenta
4	chr12:116977800-116984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:116978000-116985800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:116978200-116985800	Weak transcription	Psoas Muscle	Psoas
7	chr12:116978200-116989400	Weak transcription	Esophagus	oesophagus
8	chr12:116978400-116984200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:116978400-116985000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:116978400-116985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:116980200-116984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:116980600-116984200	Enhancers	Fetal Muscle Trunk	muscle
13	chr12:116980600-116985000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:116980800-116985800	Weak transcription	Right Ventricle	heart
15	chr12:116980800-116985800	Weak transcription	NH-A	brain
16	chr12:116981000-116985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:116981000-116985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:116981000-116985800	Weak transcription	Fetal Kidney	kidney
19	chr12:116981200-116985000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:116981200-116985400	Weak transcription	Fetal Thymus	thymus
21	chr12:116981600-116984800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:116981600-116986000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:116982000-116986000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:116982200-116984200	Enhancers	Fetal Stomach	stomach
25	chr12:116982400-116985200	Weak transcription	Colonic Mucosa	Colon
26	chr12:116982400-116986000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:116982800-116985800	Weak transcription	Fetal Lung	lung
28	chr12:116983200-116984200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:116983200-116984400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:116983200-116985600	Weak transcription	Adipose Nuclei	Adipose
31	chr12:116983200-116986800	Enhancers	K562	blood
32	chr12:116983400-116984000	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:116983400-116984200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:116983400-116984200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:116983400-116984200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:116983400-116985800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:116983600-116984000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:116983600-116984200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:116983600-116984200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:116983600-116985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:116983600-116985800	Weak transcription	Ovary	ovary
42	chr12:116983600-116986000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:116983800-116984000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:116983800-116984200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:116983800-116985200	Weak transcription	GM12878-XiMat	blood
46	chr12:116983800-116985600	Weak transcription	Fetal Brain Female	brain
47	chr12:116983800-116986200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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