Variant report

Variant	rs34922454
Chromosome Location	chr12:48192062-48192063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:48191941-48192124	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr12:48192032-48192065	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:48191793-48192858	ECC-1	luminal epithelium:	n/a	n/a
4	ZEB1	chr12:48191294-48192080	GM12878	blood:	n/a	chr12:48191688-48191697 chr12:48191872-48191879

No.	Distal block	Cell Line	Cell type
1	chr12:48185532..48188230-chr12:48190499..48192476,2	MCF-7	breast:
2	chr12:48187889..48189951-chr12:48191536..48193198,2	K562	blood:
3	chr12:48189801..48192415-chr12:48195227..48196888,2	K562	blood:
4	chr12:48177447..48181370-chr12:48191436..48194487,4	K562	blood:

Variant related genes	Relation type
HDAC7	TF binding region
ENSG00000061273	Chromatin interaction
ENSG00000268069	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11831883	0.85[EUR][1000 genomes]
rs11831940	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525052	0.90[EUR][1000 genomes]
rs2525053	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2525055	0.83[EUR][1000 genomes];0.84[ASN][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	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
2	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
3	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
4	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
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48168200-48195200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:48173000-48192400	Weak transcription	Right Atrium	heart
3	chr12:48173800-48193800	Strong transcription	Gastric	stomach
4	chr12:48173800-48195400	Strong transcription	Fetal Stomach	stomach
5	chr12:48174000-48193000	Strong transcription	Placenta	Placenta
6	chr12:48174600-48192200	Strong transcription	Lung	lung
7	chr12:48174600-48192600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:48174600-48193200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:48174600-48193400	Strong transcription	Brain Germinal Matrix	brain
10	chr12:48174600-48195600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:48174800-48192400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:48174800-48192800	Strong transcription	Primary T cells from cord blood	blood
13	chr12:48174800-48194600	Strong transcription	Fetal Intestine Large	intestine
14	chr12:48175000-48193000	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr12:48175000-48193000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:48175000-48193200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:48175000-48193200	Strong transcription	NHLF	lung
18	chr12:48175000-48193200	Strong transcription	Osteobl	bone
19	chr12:48175000-48193400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:48175200-48193600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:48175400-48192800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:48175600-48192400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:48175600-48192800	Strong transcription	Aorta	Aorta
24	chr12:48175600-48195000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:48175600-48195800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:48175800-48193000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:48176000-48192400	Strong transcription	Left Ventricle	heart
28	chr12:48176000-48192600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:48176400-48193400	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr12:48176800-48192400	Strong transcription	Colon Smooth Muscle	Colon
31	chr12:48177000-48192200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:48177400-48193400	Strong transcription	HUVEC	blood vessel
33	chr12:48177800-48196000	Strong transcription	NHEK	skin
34	chr12:48178000-48192800	Strong transcription	Adipose Nuclei	Adipose
35	chr12:48178200-48192200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:48178200-48193200	Strong transcription	Esophagus	oesophagus
37	chr12:48178600-48199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:48179600-48194800	Weak transcription	Small Intestine	intestine
39	chr12:48179600-48195400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:48179800-48201000	Weak transcription	Dnd41	blood
41	chr12:48180400-48193000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:48181000-48192400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:48181000-48192600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr12:48181000-48192800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:48181000-48193200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:48181200-48199800	Strong transcription	Fetal Intestine Small	intestine
47	chr12:48182000-48195800	Weak transcription	GM12878-XiMat	blood
48	chr12:48182000-48206400	Weak transcription	HepG2	liver
49	chr12:48182400-48193600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:48182400-48202000	Weak transcription	Fetal Brain Male	brain

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