Variant report

Variant	rs1169804
Chromosome Location	chr12:121733338-121733339
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121684993..121686828-chr12:121732453..121734188,2	K562	blood:
2	chr12:121731476..121733834-chr12:121779944..121781697,2	MCF-7	breast:
3	chr12:121733288..121735656-chr12:121790091..121791825,2	K562	blood:
4	chr12:121731746..121734589-chr12:121836434..121839785,3	K562	blood:
5	chr12:121647374..121649276-chr12:121733272..121735230,2	K562	blood:
6	chr12:121733327..121735828-chr12:121789056..121791412,2	MCF-7	breast:
7	chr12:121731746..121735132-chr12:121837281..121839785,4	K562	blood:
8	chr12:121732234..121734700-chr12:121788857..121790730,2	K562	blood:
9	chr12:121733110..121736069-chr3:81809721..81812341,2	MCF-7	breast:
10	chr12:121696462..121699185-chr12:121732816..121735056,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170633	Chromatin interaction
ENSG00000135124	Chromatin interaction
ENSG00000114480	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10774591	1.00[CEU][hapmap]
rs1567630	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2393834	1.00[EUR][1000 genomes]
rs2686367	1.00[CEU][hapmap]
rs4980993	1.00[CEU][hapmap]
rs60773958	1.00[EUR][1000 genomes]
rs73405770	1.00[EUR][1000 genomes]
rs7971785	1.00[CEU][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
2	chr12:121726400-121733400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:121730000-121733800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr12:121731000-121733800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:121732000-121733400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:121732200-121733400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:121732200-121733400	Enhancers	Fetal Heart	heart
8	chr12:121732200-121733400	Enhancers	Gastric	stomach
9	chr12:121732400-121733400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:121732400-121735800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:121732600-121733600	Flanking Active TSS	Fetal Brain Female	brain
12	chr12:121732600-121735600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:121732800-121733400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:121732800-121734200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr12:121732800-121734200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:121733000-121733400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:121733000-121733400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr12:121733000-121733400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr12:121733000-121733400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:121733000-121733400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:121733000-121733400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:121733000-121733400	Flanking Active TSS	Fetal Brain Male	brain
23	chr12:121733000-121733400	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr12:121733000-121733400	Flanking Active TSS	A549	lung
25	chr12:121733000-121733600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:121733000-121733600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:121733000-121733600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr12:121733000-121733600	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr12:121733000-121733600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr12:121733000-121733600	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr12:121733000-121733600	Flanking Active TSS	GM12878-XiMat	blood
32	chr12:121733000-121733600	Flanking Active TSS	Hela-S3	cervix
33	chr12:121733000-121733600	Flanking Active TSS	NHLF	lung
34	chr12:121733000-121733800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr12:121733000-121733800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:121733000-121733800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:121733000-121733800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr12:121733000-121733800	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr12:121733000-121733800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:121733000-121733800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:121733000-121733800	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr12:121733000-121733800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr12:121733000-121733800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
44	chr12:121733000-121733800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr12:121733000-121733800	Flanking Active TSS	Dnd41	blood
46	chr12:121733000-121733800	Flanking Active TSS	K562	blood
47	chr12:121733000-121733800	Flanking Active TSS	NHEK	skin
48	chr12:121733000-121733800	Flanking Active TSS	Osteobl	bone
49	chr12:121733000-121734000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:121733000-121734000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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