Variant report

Variant	rs11168213
Chromosome Location	chr12:48128186-48128187
allele	A/C
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	chr12:48099097..48101413-chr12:48126525..48129411,2	K562	blood:
2	chr12:48117242..48121350-chr12:48124704..48128284,5	MCF-7	breast:
3	chr12:48126373..48130503-chr12:48131382..48133997,3	K562	blood:
4	chr12:48121475..48125710-chr12:48127578..48130124,5	MCF-7	breast:
5	chr12:48113473..48116472-chr12:48126075..48128753,2	MCF-7	breast:
6	chr12:48125664..48127471-chr12:48127761..48129880,2	MCF-7	breast:
7	chr12:48118637..48121187-chr12:48125569..48128782,4	K562	blood:
8	chr12:48127396..48130262-chr12:48213853..48215540,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000061273	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000079337	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10875687	0.80[YRI][hapmap]
rs11168208	0.80[YRI][hapmap]
rs12307870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320376	1.00[AMR][1000 genomes]
rs61734363	1.00[AMR][1000 genomes]
rs61734376	1.00[AMR][1000 genomes]
rs74088021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976748	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48112600-48128600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:48114000-48134400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:48114200-48132600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:48114600-48128800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:48115600-48133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:48115600-48134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:48115600-48135000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:48116200-48134000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:48116800-48130200	Weak transcription	Aorta	Aorta
10	chr12:48117000-48129000	Weak transcription	Psoas Muscle	Psoas
11	chr12:48118200-48128800	Weak transcription	Fetal Intestine Small	intestine
12	chr12:48119800-48128600	Weak transcription	Colonic Mucosa	Colon
13	chr12:48120400-48128600	Weak transcription	NH-A	brain
14	chr12:48123000-48128400	Weak transcription	Spleen	Spleen
15	chr12:48123600-48128600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:48123600-48128600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:48123800-48128200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:48124200-48128400	Weak transcription	Fetal Kidney	kidney
19	chr12:48124200-48130000	Weak transcription	Liver	Liver
20	chr12:48124400-48129000	Weak transcription	Gastric	stomach
21	chr12:48124400-48129600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:48124600-48128200	Weak transcription	HSMMtube	muscle
23	chr12:48124600-48128400	Weak transcription	Lung	lung
24	chr12:48124600-48128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:48124600-48130000	Weak transcription	K562	blood
26	chr12:48124800-48128200	Weak transcription	Fetal Lung	lung
27	chr12:48124800-48128800	Weak transcription	HSMM	muscle
28	chr12:48124800-48129400	Weak transcription	NHLF	lung
29	chr12:48124800-48130000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:48125000-48128600	Weak transcription	Pancreas	Pancrea
31	chr12:48125400-48129600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:48125400-48132200	Enhancers	Fetal Muscle Leg	muscle
33	chr12:48125600-48129000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:48125600-48129600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:48125600-48130800	Enhancers	Brain Hippocampus Middle	brain
36	chr12:48125600-48132200	Enhancers	Brain Substantia Nigra	brain
37	chr12:48125800-48129200	Enhancers	Brain Cingulate Gyrus	brain
38	chr12:48125800-48130000	Enhancers	Adipose Nuclei	Adipose
39	chr12:48126000-48128600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:48126000-48128800	Weak transcription	NHDF-Ad	bronchial
41	chr12:48126000-48129200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:48126400-48128200	Weak transcription	Fetal Heart	heart
43	chr12:48126800-48132400	Enhancers	Brain Angular Gyrus	brain
44	chr12:48126800-48133400	Enhancers	Ovary	ovary
45	chr12:48127000-48128200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:48127000-48134000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:48127200-48128400	Weak transcription	Esophagus	oesophagus
48	chr12:48127200-48128600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:48127200-48128800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:48127200-48129600	Weak transcription	Primary monocytes fromperipheralblood	blood

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