Variant report

Variant	rs2024
Chromosome Location	chr12:49420191-49420192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49420054-49420765	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:49419807-49421305	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:49419825-49421032	K562	blood:	n/a	n/a
4	POLR2A	chr12:49420167-49420231	MCF-7	breast:	n/a	n/a
5	POLR2A	chr12:49419950-49420851	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:49420056-49420930	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:49420150-49420445	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:49420018-49420672	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:49419898-49421210	K562	blood:	n/a	n/a
10	POLR2A	chr12:49420136-49420415	K562	blood:	n/a	n/a
11	POLR2A	chr12:49419787-49420966	HL-60	blood:	n/a	n/a
12	POLR2A	chr12:49420040-49420717	K562	blood:	n/a	n/a
13	POLR2A	chr12:49420057-49420229	A549	lung:	n/a	n/a
14	POLR2A	chr12:49420145-49420936	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49419321..49422415-chr12:49423384..49426878,5	K562	blood:
2	chr12:49419991..49422211-chr12:49452843..49455053,2	MCF-7	breast:
3	chr12:49418592..49421538-chr12:49427562..49429624,2	K562	blood:
4	chr12:49420114..49421671-chr12:49444678..49447267,2	MCF-7	breast:
5	chr12:49418596..49423943-chr12:49429715..49433186,5	MCF-7	breast:

No data

Variant related genes	Relation type
KMT2D	TF binding region
ENSG00000167548	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10459219	1.00[LWK][hapmap]
rs12321484	1.00[LWK][hapmap]
rs12809774	1.00[LWK][hapmap]
rs2229954	1.00[LWK][hapmap]
rs3741624	1.00[LWK][hapmap]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49413000-49453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:49413200-49421400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:49413200-49424800	Weak transcription	Right Atrium	heart
4	chr12:49413400-49421600	Weak transcription	Stomach Mucosa	stomach
5	chr12:49413400-49449000	Strong transcription	Fetal Intestine Small	intestine
6	chr12:49413800-49444000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:49413800-49449200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:49414000-49429600	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:49414200-49429200	Strong transcription	Fetal Brain Female	brain
10	chr12:49414200-49449000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:49414400-49424800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:49414400-49425200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr12:49414400-49426000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:49414400-49426000	Strong transcription	Brain Hippocampus Middle	brain
15	chr12:49414400-49426600	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:49414400-49429000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:49414400-49429200	Strong transcription	NHLF	lung
18	chr12:49414400-49443000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:49414400-49443600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:49414400-49448800	Strong transcription	Colonic Mucosa	Colon
21	chr12:49414400-49449000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:49414400-49449000	Strong transcription	Brain Cingulate Gyrus	brain
23	chr12:49414400-49449000	Strong transcription	Brain Germinal Matrix	brain
24	chr12:49414400-49449200	Strong transcription	Fetal Stomach	stomach
25	chr12:49414400-49449200	Strong transcription	Fetal Thymus	thymus
26	chr12:49414400-49449200	Strong transcription	Thymus	Thymus
27	chr12:49414400-49449400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:49414400-49449400	Strong transcription	Fetal Intestine Large	intestine
29	chr12:49414400-49449800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:49414600-49421800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:49414600-49422800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:49414600-49424000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:49414600-49424000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:49414600-49424800	Strong transcription	HSMMtube	muscle
35	chr12:49414600-49425000	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:49414600-49427600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:49414600-49427800	Strong transcription	Brain Anterior Caudate	brain
38	chr12:49414600-49428800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:49414600-49429400	Strong transcription	Lung	lung
40	chr12:49414600-49429400	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr12:49414600-49429400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:49414600-49433000	Strong transcription	Placenta	Placenta
43	chr12:49414600-49439600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:49414600-49442600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:49414600-49443200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:49414600-49443200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr12:49414600-49448600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:49414600-49448600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:49414600-49448600	Strong transcription	Adipose Nuclei	Adipose
50	chr12:49414600-49448800	Strong transcription	Ovary	ovary

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