Variant report

Variant	rs12322207
Chromosome Location	chr12:49737980-49737981
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49737902..49739791-chr12:50017311..50019000,2	K562	blood:
2	chr12:49656587..49660636-chr12:49733539..49743833,13	K562	blood:
3	chr12:49737598..49740843-chr12:49959274..49963250,5	K562	blood:
4	chr12:49709675..49711213-chr12:49736436..49739309,2	MCF-7	breast:
5	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
6	chr12:49737554..49739501-chr12:49915441..49917744,2	MCF-7	breast:
7	chr12:49668999..49670991-chr12:49736933..49738497,2	K562	blood:
8	chr12:49689234..49691243-chr12:49737194..49739589,2	MCF-7	breast:
9	chr12:49655321..49661148-chr12:49729487..49743115,26	K562	blood:
10	chr12:49662709..49665978-chr12:49735321..49738677,4	K562	blood:
11	chr12:49735114..49738057-chr12:49759505..49762701,3	K562	blood:
12	chr12:49656742..49663815-chr12:49736558..49745017,19	MCF-7	breast:
13	chr12:49661766..49665978-chr12:49735321..49738677,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10467104	1.00[AFR][1000 genomes]
rs11168994	1.00[AFR][1000 genomes]
rs11169002	1.00[LWK][hapmap]
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]
rs12310740	1.00[LWK][hapmap]
rs12314657	1.00[LWK][hapmap]
rs12321484	1.00[LWK][hapmap]
rs12322175	1.00[AFR][1000 genomes]
rs12427232	1.00[LWK][hapmap]

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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49734200-49739400	Weak transcription	Hela-S3	cervix
2	chr12:49736400-49738000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
3	chr12:49736600-49738200	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr12:49736600-49738800	Enhancers	Liver	Liver
5	chr12:49736800-49739000	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr12:49737000-49738000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:49737000-49738000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr12:49737000-49738000	Bivalent Enhancer	HUVEC	blood vessel
9	chr12:49737000-49738800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr12:49737000-49738800	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr12:49737000-49738800	Bivalent Enhancer	Fetal Stomach	stomach
12	chr12:49737000-49739400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr12:49737000-49739400	Bivalent Enhancer	Fetal Intestine Small	intestine
14	chr12:49737000-49740400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:49737200-49738000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
16	chr12:49737200-49738000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
17	chr12:49737200-49738000	Bivalent Enhancer	Brain Substantia Nigra	brain
18	chr12:49737200-49738000	Bivalent Enhancer	Colon Smooth Muscle	Colon
19	chr12:49737200-49738000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
20	chr12:49737200-49738000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
21	chr12:49737200-49738000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
22	chr12:49737200-49738000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr12:49737200-49738000	Bivalent Enhancer	NHEK	skin
24	chr12:49737200-49738200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:49737200-49738800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:49737200-49738800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr12:49737200-49738800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr12:49737200-49739400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:49737200-49739400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:49737400-49738000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:49737400-49738000	Bivalent Enhancer	Brain Germinal Matrix	brain
32	chr12:49737400-49738000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
33	chr12:49737400-49738000	Bivalent Enhancer	Fetal Brain Female	brain
34	chr12:49737400-49738000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr12:49737400-49738000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
36	chr12:49737400-49738000	Bivalent Enhancer	GM12878-XiMat	blood
37	chr12:49737400-49738200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:49737400-49738200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr12:49737400-49738200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
40	chr12:49737400-49738200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
41	chr12:49737400-49738200	Enhancers	Brain Anterior Caudate	brain
42	chr12:49737400-49738200	Enhancers	Brain Hippocampus Middle	brain
43	chr12:49737400-49738200	Bivalent Enhancer	HepG2	liver
44	chr12:49737400-49738600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:49737400-49738600	Bivalent Enhancer	Fetal Kidney	kidney
46	chr12:49737400-49738800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:49737400-49738800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:49737400-49738800	Weak transcription	Right Atrium	heart
49	chr12:49737400-49738800	Weak transcription	Right Ventricle	heart
50	chr12:49737400-49739000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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