Variant report

Variant	rs7314235
Chromosome Location	chr12:51631781-51631782
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:51631680-51631830	HCT-116	colon:	n/a	n/a
2	NR2F2	chr12:51631673-51633377	K562	blood:	n/a	n/a
3	POLR2A	chr12:51631598-51631817	HepG2	liver:	n/a	n/a
4	HCFC1	chr12:51631682-51633398	Hela-S3	cervix:	n/a	n/a
5	REST	chr12:51631616-51633443	H1-neurons	neurons:	n/a	chr12:51632826-51632839 chr12:51632471-51632484 chr12:51632834-51632844 chr12:51632826-51632846
6	NFIC	chr12:51631767-51633122	ECC-1	luminal epithelium:	n/a	chr12:51632284-51632301 chr12:51632285-51632301

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51475685..51480588-chr12:51631516..51635411,7	K562	blood:
2	chr12:51630916..51632969-chr12:51661911..51664202,4	MCF-7	breast:
3	chr12:51631526..51635212-chr12:51662486..51664929,4	MCF-7	breast:
4	chr12:51564447..51569582-chr12:51630930..51635335,8	K562	blood:
5	chr12:51441619..51444815-chr12:51631402..51636504,5	K562	blood:
6	chr12:51440782..51445752-chr12:51631445..51635429,5	MCF-7	breast:
7	chr12:51610630..51613333-chr12:51630974..51632942,2	MCF-7	breast:
8	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
9	chr12:51420182..51422992-chr12:51631104..51633893,3	MCF-7	breast:
10	chr12:51440639..51443821-chr12:51630707..51634068,3	K562	blood:
11	chr12:51611183..51613531-chr12:51631479..51634171,5	MCF-7	breast:
12	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
13	chr12:51474566..51481175-chr12:51630411..51639813,21	MCF-7	breast:
14	chr12:51475977..51480172-chr12:51631546..51634625,6	K562	blood:
15	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:
16	chr12:51621810..51624341-chr12:51628368..51631959,3	K562	blood:
17	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:

No data

Variant related genes	Relation type
DAZAP2	TF binding region
ENSG00000110911	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10783422	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783423	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783425	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876154	0.86[EUR][1000 genomes]
rs10876155	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1130598	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3888223	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6421171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580809	0.86[EUR][1000 genomes]
rs6580816	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580817	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7305016	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7307217	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7309376	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310947	0.92[ASN][1000 genomes]
rs7398443	0.85[EUR][1000 genomes]
rs7959901	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51613000-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:51613400-51631800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:51613400-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:51613400-51632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:51613600-51631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:51613600-51631800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:51613600-51631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:51616800-51631800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:51619400-51631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:51619600-51631800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:51620000-51631800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:51621200-51632000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:51624000-51631800	Weak transcription	Brain Germinal Matrix	brain
14	chr12:51629400-51631800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:51629400-51631800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:51630400-51631800	Weak transcription	K562	blood
17	chr12:51630800-51631800	Enhancers	Fetal Thymus	thymus
18	chr12:51631600-51631800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:51631600-51631800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:51631600-51631800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:51631600-51631800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:51631600-51631800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:51631600-51631800	Enhancers	Primary B cells from cord blood	blood
24	chr12:51631600-51631800	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:51631600-51631800	Enhancers	Primary T cells from cord blood	blood
26	chr12:51631600-51631800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:51631600-51631800	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:51631600-51631800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:51631600-51631800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:51631600-51631800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:51631600-51631800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:51631600-51631800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:51631600-51631800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:51631600-51631800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr12:51631600-51631800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:51631600-51631800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:51631600-51631800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:51631600-51631800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:51631600-51631800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:51631600-51631800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:51631600-51631800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:51631600-51631800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:51631600-51631800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:51631600-51631800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:51631600-51631800	Enhancers	Adipose Nuclei	Adipose
46	chr12:51631600-51631800	Enhancers	Liver	Liver
47	chr12:51631600-51631800	Enhancers	Brain Angular Gyrus	brain
48	chr12:51631600-51631800	Enhancers	Brain Anterior Caudate	brain
49	chr12:51631600-51631800	Enhancers	Brain Hippocampus Middle	brain
50	chr12:51631600-51631800	Enhancers	Brain Inferior Temporal Lobe	brain

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