Variant report

Variant	rs57626094
Chromosome Location	chr12:120314898-120314899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120314416..120314916-chr17:41465780..41466372,2	NB4	blood:
2	chr12:120313416..120316416-chr17:41464359..41467641,4	K562	blood:
3	chr12:120313415..120316416-chr17:41464359..41467641,4	K562	blood:
4	chr12:120313396..120316395-chr17:41464679..41467181,3	MCF-7	breast:
5	chr12:120314676..120315263-chr13:27998496..27999030,2	NB4	blood:
6	chr12:120314625..120315526-chr14:55517585..55518582,2	Hela-S3	cervix:
7	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:
8	chr12:120314350..120315302-chr15:45492568..45493350,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000138606	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000122034	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11064946	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12164852	0.84[AMR][1000 genomes]
rs12303725	0.95[EUR][1000 genomes]
rs12303871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316230	0.84[AMR][1000 genomes]
rs12317711	0.84[AMR][1000 genomes]
rs12319537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320276	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13313223	0.90[EUR][1000 genomes]
rs55906258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56903823	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57243313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57459050	0.94[EUR][1000 genomes]
rs57487797	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57908788	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58111169	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58399872	0.84[AMR][1000 genomes]
rs58893111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59347602	0.95[EUR][1000 genomes]
rs59442639	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60392056	0.84[EUR][1000 genomes]
rs7304029	0.95[EUR][1000 genomes]
rs73418594	0.90[EUR][1000 genomes]
rs73420604	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73420615	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73420618	0.84[AMR][1000 genomes]
rs7967407	0.83[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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120314000-120315400	Active TSS	Muscle Satellite Cultured Cells	--
2	chr12:120314000-120315400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:120314000-120315400	Active TSS	NH-A	brain
4	chr12:120314000-120315600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:120314000-120315600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:120314000-120315600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:120314000-120315800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:120314000-120315800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:120314000-120315800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:120314200-120315000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:120314200-120315200	Active TSS	Fetal Muscle Trunk	muscle
12	chr12:120314200-120315400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:120314200-120315400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:120314200-120315400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:120314200-120315400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:120314200-120315400	Active TSS	Fetal Intestine Small	intestine
17	chr12:120314200-120315400	Active TSS	HSMM	muscle
18	chr12:120314200-120315400	Active TSS	Osteobl	bone
19	chr12:120314200-120315600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:120314200-120315600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:120314200-120315600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr12:120314200-120315600	Active TSS	Fetal Kidney	kidney
23	chr12:120314200-120315600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:120314200-120315800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:120314200-120315800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr12:120314200-120315800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:120314200-120315800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:120314200-120315800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:120314200-120315800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:120314400-120315000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr12:120314400-120315200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:120314400-120315400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:120314400-120315400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:120314400-120315400	Active TSS	Colonic Mucosa	Colon
35	chr12:120314400-120315400	Active TSS	Gastric	stomach
36	chr12:120314400-120315400	Active TSS	Left Ventricle	heart
37	chr12:120314400-120315400	Active TSS	Stomach Mucosa	stomach
38	chr12:120314400-120315400	Active TSS	NHDF-Ad	bronchial
39	chr12:120314400-120315400	Active TSS	NHLF	lung
40	chr12:120314400-120315600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr12:120314400-120315600	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr12:120314400-120315600	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr12:120314400-120315600	Active TSS	Colon Smooth Muscle	Colon
44	chr12:120314400-120315600	Active TSS	HSMMtube	muscle
45	chr12:120314400-120315800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:120314400-120315800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:120314400-120315800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:120314400-120315800	Active TSS	GM12878-XiMat	blood
49	chr12:120314400-120316000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr12:120314400-120316000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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