Variant report

Variant	rs7313739
Chromosome Location	chr12:50225416-50225417
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50225376-50225426	GM19239	blood:	n/a
2	chr12:50225376-50225426	HRE	kidney:	n/a
3	chr12:50225376-50225426	T-47D	breast:	n/a
4	chr12:50225376-50225426	HepG2	liver:	n/a
5	chr12:50225376-50225426	LNCaP	prostate:	n/a
6	chr12:50225376-50225426	AG09319	gingival:	n/a
7	chr12:50225376-50225426	SKMC	muscle:	n/a
8	chr12:50225376-50225426	HMEC	breast:	n/a
9	chr12:50225376-50225426	Hepatocyte	liver:	n/a
10	chr12:50225376-50225426	PrEC	prostate:	n/a
11	chr12:50225376-50225426	HRPEpiC	eye:	n/a
12	chr12:50225376-50225426	HCT-116	colon:	n/a
13	chr12:50225376-50225426	NT2-D1	testis:	n/a
14	chr12:50225376-50225426	MCF-7	breast:	n/a
15	chr12:50225376-50225426	HCM	heart:	n/a
16	chr12:50225376-50225426	HNPCEpiC	eye:	n/a
17	chr12:50225376-50225426	K562	blood:	n/a
18	chr12:50225376-50225426	IMR90	lung:	fetal
19	chr12:50225376-50225426	A549	lung:	n/a
20	chr12:50225376-50225426	NHBE	bronchial:	n/a
21	chr12:50225376-50225426	PFSK-1	brain:	n/a
22	chr12:50225376-50225426	SK-N-SH_RA	brain:	n/a
23	chr12:50225376-50225426	SAEC	small airway:	n/a
24	chr12:50225376-50225426	HCPEpiC	choroid plexus:	n/a
25	chr12:50225376-50225426	AG10803	skin:	n/a
26	chr12:50225376-50225426	HUVEC	blood vessel:	n/a
27	chr12:50225376-50225426	RPTEC	kidney:	n/a
28	chr12:50225376-50225426	BE2_C	brain:	n/a
29	chr12:50225376-50225426	HCF	heart:	n/a
30	chr12:50225376-50225426	Jurkat	blood:	n/a
31	chr12:50225376-50225426	HIPEpiC	eye:	n/a
32	chr12:50225376-50225426	MCF10A-Er-Src	breast:	n/a
33	chr12:50225376-50225426	HRCEpiC	kidney:	n/a
34	chr12:50225376-50225426	U87	brain:	n/a
35	chr12:50225376-50225426	ovcar-3	ovarian:	n/a
36	chr12:50225376-50225426	Caco-2	colon:	n/a
37	chr12:50225376-50225426	GM12891	blood:	n/a
38	chr12:50225376-50225426	NB4	blood:	n/a
39	chr12:50225376-50225426	SK-N-SH	brain:	n/a
40	chr12:50225376-50225426	HEK293	kidney:	embryo
41	chr12:50225376-50225426	GM06990	blood:	n/a
42	chr12:50225376-50225426	NHDF-neo	bronchial:	n/a
43	chr12:50225376-50225426	AG04450	lung:	fetal
44	chr12:50225376-50225426	HAEpiC	amniotic membrane:	n/a
45	chr12:50225376-50225426	AG09309	skin:	n/a
46	chr12:50225376-50225426	ECC-1	luminal epithelium:	n/a
47	chr12:50225376-50225426	CMK	blood:	n/a
48	chr12:50225376-50225426	PANC-1	pancreas:	n/a
49	chr12:50225376-50225426	HL-60	blood:	n/a
50	chr12:50225376-50225426	AG04449	skin:	fetal

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50220112..50224669-chr12:50225407..50232096,10	K562	blood:
2	chr12:50193481..50196503-chr12:50223666..50226555,3	MCF-7	breast:
3	chr12:50224798..50226828-chr12:50232751..50234634,3	K562	blood:
4	chr12:50168654..50171437-chr12:50224494..50226796,2	MCF-7	breast:
5	chr12:50190258..50192512-chr12:50224620..50227026,2	K562	blood:

No data

Variant related genes	Relation type
NCKAP5L	CpG island
ENSG00000258057	Chromatin interaction
ENSG00000167566	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1027711	1.00[CHB][hapmap]
rs10875977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169164	1.00[ASN][1000 genomes]
rs11169165	1.00[ASN][1000 genomes]
rs11169171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315844	1.00[ASN][1000 genomes]
rs12321190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123990	1.00[ASN][1000 genomes]
rs56751503	1.00[ASN][1000 genomes]
rs57832845	1.00[ASN][1000 genomes]
rs61691368	1.00[ASN][1000 genomes]
rs7137037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309054	1.00[ASN][1000 genomes]
rs73309064	1.00[ASN][1000 genomes]
rs73309090	1.00[ASN][1000 genomes]
rs73310907	1.00[ASN][1000 genomes]
rs7955428	1.00[CHB][hapmap]
rs7968164	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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 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	chr12:50222800-50235400	Weak transcription	Ovary	ovary
2	chr12:50222800-50236200	Weak transcription	Aorta	Aorta
3	chr12:50223000-50226400	Weak transcription	Placenta	Placenta
4	chr12:50223000-50226400	Weak transcription	Osteobl	bone
5	chr12:50223000-50231800	Weak transcription	Pancreas	Pancrea
6	chr12:50223000-50232000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:50223000-50234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:50223000-50234600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:50223000-50235000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:50223000-50235400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:50223000-50235400	Weak transcription	Left Ventricle	heart
12	chr12:50223000-50235600	Weak transcription	Brain Substantia Nigra	brain
13	chr12:50223000-50236000	Weak transcription	Lung	lung
14	chr12:50223200-50226200	Weak transcription	HSMMtube	muscle
15	chr12:50223200-50226400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:50223200-50226400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:50223200-50226400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:50223200-50226600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:50223200-50226800	Weak transcription	NH-A	brain
20	chr12:50223200-50231800	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:50223200-50232000	Weak transcription	NHLF	lung
22	chr12:50223200-50235200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:50223200-50235200	Weak transcription	Liver	Liver
24	chr12:50223200-50235200	Weak transcription	HSMM	muscle
25	chr12:50223200-50235400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:50223200-50235400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:50223200-50235400	Weak transcription	Adipose Nuclei	Adipose
28	chr12:50223200-50235400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:50223200-50235400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:50223200-50235400	Weak transcription	Thymus	Thymus
31	chr12:50223200-50235400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr12:50223200-50235400	Weak transcription	NHDF-Ad	bronchial
33	chr12:50223200-50235600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:50223400-50226000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:50223400-50226200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:50223400-50226200	Weak transcription	NHEK	skin
37	chr12:50223400-50226400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:50223400-50226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:50223400-50226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:50223400-50226400	Weak transcription	HMEC	breast
41	chr12:50223400-50231800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:50223400-50231800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:50223400-50231800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:50223400-50232000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:50223400-50232000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:50223400-50232200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:50223400-50232600	Weak transcription	Fetal Thymus	thymus
48	chr12:50223400-50233200	Weak transcription	A549	lung
49	chr12:50223400-50234600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:50223400-50235000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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