Variant report

Variant	rs73340232
Chromosome Location	chr12:58201310-58201311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:58201211-58201344	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:58200784-58201322	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr12:58201240-58201390	AG09309	skin:	n/a	n/a
4	POLR2A	chr12:58201299-58201592	PFSK-1	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58201131..58203130-chr2:73963168..73964881,2	MCF-7	breast:
2	chr12:58164894..58167465-chr12:58198689..58202991,3	K562	blood:
3	chr12:58199230..58201571-chr12:58202768..58204618,2	MCF-7	breast:
4	chr12:58193274..58197647-chr12:58200040..58205215,7	MCF-7	breast:
5	chr12:58200080..58203835-chr12:58209165..58211460,3	K562	blood:
6	chr12:58196723..58199553-chr12:58199752..58203414,5	K562	blood:

No data

Variant related genes	Relation type
RNU6-1083P	TF binding region
AVIL	TF binding region
ENSG00000144034	Chromatin interaction
ENSG00000135407	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000270039	Chromatin interaction
ENSG00000037897	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28704571	1.00[AMR][1000 genomes]
rs4760331	1.00[AMR][1000 genomes]
rs56218802	1.00[AMR][1000 genomes]
rs73338256	1.00[AMR][1000 genomes]
rs73340215	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73340240	1.00[AMR][1000 genomes]
rs73340266	1.00[AMR][1000 genomes]
rs73340267	1.00[AMR][1000 genomes]
rs73342234	1.00[AMR][1000 genomes]
rs73344379	1.00[AMR][1000 genomes]
rs73344382	1.00[AMR][1000 genomes]
rs73344386	1.00[AMR][1000 genomes]
rs73344388	1.00[AMR][1000 genomes]
rs73346380	1.00[AMR][1000 genomes]
rs73348214	1.00[AMR][1000 genomes]
rs73348217	1.00[AMR][1000 genomes]
rs7956170	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58177400-58216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:58178600-58207600	Strong transcription	Liver	Liver
3	chr12:58181400-58216000	Weak transcription	Fetal Brain Male	brain
4	chr12:58187000-58216600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:58187200-58215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:58188600-58207800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:58189000-58208400	Strong transcription	Fetal Stomach	stomach
8	chr12:58189200-58207800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:58189400-58207200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:58189800-58208400	Strong transcription	Placenta	Placenta
11	chr12:58190200-58216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:58190400-58208000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:58190800-58202400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:58190800-58215200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:58190800-58216200	Weak transcription	HUVEC	blood vessel
16	chr12:58191000-58201400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:58191000-58216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:58191200-58201400	Weak transcription	HepG2	liver
19	chr12:58191200-58213600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:58191200-58216200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:58191600-58204200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:58191800-58204200	Weak transcription	HMEC	breast
23	chr12:58191800-58208400	Weak transcription	Psoas Muscle	Psoas
24	chr12:58192000-58210600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:58192200-58216200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:58192400-58205600	Strong transcription	Lung	lung
27	chr12:58193000-58210200	Strong transcription	Fetal Intestine Small	intestine
28	chr12:58193200-58201600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:58193200-58215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:58193400-58216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:58193600-58201800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:58193800-58204200	Weak transcription	Stomach Mucosa	stomach
33	chr12:58194000-58201400	Weak transcription	Dnd41	blood
34	chr12:58194200-58215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:58195200-58210600	Weak transcription	Small Intestine	intestine
36	chr12:58196800-58201400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:58197000-58203000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:58197200-58211600	Weak transcription	A549	lung
39	chr12:58197200-58216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:58197600-58201800	Weak transcription	Primary B cells from cord blood	blood
41	chr12:58197600-58203800	Weak transcription	K562	blood
42	chr12:58197600-58204000	Weak transcription	NHEK	skin
43	chr12:58197600-58206400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:58197800-58201600	Weak transcription	GM12878-XiMat	blood
45	chr12:58197800-58208000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:58198200-58203000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:58198200-58204400	Weak transcription	Hela-S3	cervix
48	chr12:58198200-58204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:58198200-58207400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:58198400-58215000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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