Variant report

Variant	rs12322175
Chromosome Location	chr12:49737744-49737745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:49737293-49737756	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49656587..49660636-chr12:49733539..49743833,13	K562	blood:
2	chr12:49737598..49740843-chr12:49959274..49963250,5	K562	blood:
3	chr12:49709675..49711213-chr12:49736436..49739309,2	MCF-7	breast:
4	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
5	chr12:49737554..49739501-chr12:49915441..49917744,2	MCF-7	breast:
6	chr12:49668999..49670991-chr12:49736933..49738497,2	K562	blood:
7	chr12:49689234..49691243-chr12:49737194..49739589,2	MCF-7	breast:
8	chr12:49655321..49661148-chr12:49729487..49743115,26	K562	blood:
9	chr12:49662709..49665978-chr12:49735321..49738677,4	K562	blood:
10	chr12:49735114..49738057-chr12:49759505..49762701,3	K562	blood:
11	chr12:49656742..49663815-chr12:49736558..49745017,19	MCF-7	breast:
12	chr12:49661766..49665978-chr12:49735321..49738677,5	K562	blood:

No data

Variant related genes	Relation type
DNAJC22	TF binding region
ENSG00000110844	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10467104	1.00[AFR][1000 genomes]
rs11168994	1.00[AFR][1000 genomes]
rs11169030	1.00[AFR][1000 genomes]
rs11169036	1.00[AFR][1000 genomes]
rs11169072	1.00[AFR][1000 genomes]
rs11169077	1.00[AFR][1000 genomes]
rs12297088	1.00[AFR][1000 genomes]
rs12300053	1.00[AFR][1000 genomes]
rs12305870	1.00[AFR][1000 genomes]
rs12309765	1.00[AFR][1000 genomes]
rs12322207	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49734200-49739400	Weak transcription	Hela-S3	cervix
2	chr12:49735800-49737800	Enhancers	Gastric	stomach
3	chr12:49736000-49737800	Enhancers	Pancreas	Pancrea
4	chr12:49736200-49737800	Bivalent Enhancer	Fetal Thymus	thymus
5	chr12:49736400-49738000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
6	chr12:49736600-49738200	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr12:49736600-49738800	Enhancers	Liver	Liver
8	chr12:49736800-49737800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
9	chr12:49736800-49737800	Bivalent Enhancer	Esophagus	oesophagus
10	chr12:49736800-49737800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr12:49736800-49737800	Bivalent Enhancer	Small Intestine	intestine
12	chr12:49736800-49739000	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr12:49737000-49737800	Enhancers	Ovary	ovary
14	chr12:49737000-49737800	Enhancers	Spleen	Spleen
15	chr12:49737000-49737800	Enhancers	K562	blood
16	chr12:49737000-49738000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:49737000-49738000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr12:49737000-49738000	Bivalent Enhancer	HUVEC	blood vessel
19	chr12:49737000-49738800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr12:49737000-49738800	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr12:49737000-49738800	Bivalent Enhancer	Fetal Stomach	stomach
22	chr12:49737000-49739400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr12:49737000-49739400	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr12:49737000-49740400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:49737200-49737800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:49737200-49737800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:49737200-49737800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:49737200-49737800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:49737200-49738000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr12:49737200-49738000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
31	chr12:49737200-49738000	Bivalent Enhancer	Brain Substantia Nigra	brain
32	chr12:49737200-49738000	Bivalent Enhancer	Colon Smooth Muscle	Colon
33	chr12:49737200-49738000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr12:49737200-49738000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
35	chr12:49737200-49738000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
36	chr12:49737200-49738000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr12:49737200-49738000	Bivalent Enhancer	NHEK	skin
38	chr12:49737200-49738200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:49737200-49738800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:49737200-49738800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr12:49737200-49738800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr12:49737200-49739400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:49737200-49739400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:49737400-49737800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:49737400-49737800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr12:49737400-49737800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:49737400-49737800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:49737400-49737800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
49	chr12:49737400-49737800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:49737400-49737800	Bivalent Enhancer	Colonic Mucosa	Colon

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