Variant report

Variant	rs11168823
Chromosome Location	chr12:49407777-49407778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49406834..49409203-chr12:49502469..49504169,2	K562	blood:
2	chr12:49402719..49406068-chr12:49407016..49408969,3	MCF-7	breast:
3	chr12:49407466..49416688-chr12:49451532..49456163,12	MCF-7	breast:
4	chr12:49404764..49408231-chr12:49523736..49525425,3	K562	blood:

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000139636	Chromatin interaction

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

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

rs_ID	r²[population]
rs11168820	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168821	1.00[AMR][1000 genomes]
rs11168824	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168826	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303646	1.00[AMR][1000 genomes]
rs12304391	1.00[AMR][1000 genomes]
rs12309341	1.00[AMR][1000 genomes]
rs12315734	1.00[AMR][1000 genomes]
rs13377924	1.00[AMR][1000 genomes]
rs13377927	1.00[AMR][1000 genomes]
rs4018512	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49395400-49411600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:49396000-49411600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:49396800-49411400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:49397000-49411200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:49397000-49411400	Weak transcription	Fetal Brain Male	brain
6	chr12:49397200-49411600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:49397600-49411400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:49399200-49411400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:49399600-49411000	Weak transcription	Pancreas	Pancrea
10	chr12:49399800-49411000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:49399800-49411400	Weak transcription	Fetal Kidney	kidney
12	chr12:49399800-49411600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:49400000-49410200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:49402600-49408400	Weak transcription	Psoas Muscle	Psoas
15	chr12:49403200-49411400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:49404200-49408600	Strong transcription	GM12878-XiMat	blood
17	chr12:49404200-49411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:49404400-49408400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:49405200-49410600	Weak transcription	NHDF-Ad	bronchial
20	chr12:49405400-49410000	Weak transcription	NHEK	skin
21	chr12:49406000-49408600	Strong transcription	A549	lung
22	chr12:49406000-49408600	Strong transcription	Hela-S3	cervix
23	chr12:49406000-49411600	Weak transcription	Colonic Mucosa	Colon
24	chr12:49406000-49411600	Weak transcription	Esophagus	oesophagus
25	chr12:49406200-49411200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:49406200-49411400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:49406200-49411600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:49406200-49411600	Weak transcription	Aorta	Aorta
29	chr12:49406200-49411800	Weak transcription	Lung	lung
30	chr12:49406400-49411200	Weak transcription	Brain Germinal Matrix	brain
31	chr12:49406600-49408800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:49406600-49411000	Weak transcription	Fetal Intestine Small	intestine
33	chr12:49406600-49411600	Weak transcription	Spleen	Spleen
34	chr12:49406600-49411800	Weak transcription	Gastric	stomach
35	chr12:49406800-49410200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:49406800-49410200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:49406800-49410600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:49406800-49410600	Weak transcription	Brain Angular Gyrus	brain
39	chr12:49406800-49411000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:49406800-49411000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:49406800-49411200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:49406800-49411200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:49406800-49411200	Weak transcription	HUVEC	blood vessel
44	chr12:49406800-49411400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:49406800-49411400	Weak transcription	Primary B cells from cord blood	blood
46	chr12:49406800-49411400	Weak transcription	Brain Anterior Caudate	brain
47	chr12:49406800-49411400	Weak transcription	Brain Substantia Nigra	brain
48	chr12:49406800-49411400	Weak transcription	Small Intestine	intestine
49	chr12:49407000-49408200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:49407000-49408200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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