Variant report

Variant	rs74091604
Chromosome Location	chr12:57031747-57031748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57027544-57032262	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:57031612-57031786	HepG2	liver:	n/a	n/a
3	CTCF	chr12:57030061-57031802	A549	lung:	n/a	chr12:57030975-57030993 chr12:57030618-57030636 chr12:57030978-57030991 chr12:57030762-57030771 chr12:57030762-57030775 chr12:57030976-57030992
4	POLR2A	chr12:57028477-57032011	GM12892	blood:	n/a	n/a
5	POLR2A	chr12:57031517-57031863	HCT-116	colon:	n/a	n/a
6	POLR2A	chr12:57031735-57031774	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:57028013-57032021	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:57029575-57032364	K562	blood:	n/a	n/a
9	POLR2A	chr12:57029641-57032412	K562	blood:	n/a	n/a
10	POLR2A	chr12:57029791-57031960	GM12892	blood:	n/a	n/a
11	HEY1	chr12:57031522-57031985	K562	blood:	n/a	n/a
12	POLR2A	chr12:57031619-57031958	K562	blood:	n/a	n/a
13	POLR2A	chr12:57027916-57032107	GM12891	blood:	n/a	n/a
14	POLR2A	chr12:57029645-57031926	GM12892	blood:	n/a	n/a
15	POLR2A	chr12:57031714-57031767	A549	lung:	n/a	n/a
16	POLR2A	chr12:57031464-57031854	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:57027878-57031998	K562	blood:	n/a	n/a
18	POLR2A	chr12:57027558-57032663	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:57031718-57031854	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:57029725-57031978	K562	blood:	n/a	n/a
21	POLR2A	chr12:57029605-57032332	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr12:57031632-57032111	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr12:57029762-57031805	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr12:57029761-57031895	GM12891	blood:	n/a	n/a
25	POLR2A	chr12:57029644-57031828	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:57031509-57032028	GM12891	blood:	n/a	n/a
27	POLR2A	chr12:57028565-57032572	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:57031539-57031877	GM12891	blood:	n/a	n/a
29	POLR2A	chr12:57029823-57031910	GM12892	blood:	n/a	n/a
30	POLR2A	chr12:57029644-57031929	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr12:57029663-57032253	K562	blood:	n/a	n/a
32	POLR2A	chr12:57029644-57032428	K562	blood:	n/a	n/a
33	POLR2A	chr12:57029924-57032363	K562	blood:	n/a	n/a
34	PML	chr12:57030233-57031788	K562	blood:	n/a	chr12:57031023-57031031
35	POLR2A	chr12:57030474-57031925	K562	blood:	n/a	n/a
36	POLR2A	chr12:57029969-57031853	HepG2	liver:	n/a	n/a
37	POLR2A	chr12:57029646-57032290	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57026160..57032326-chr12:57079667..57084551,17	K562	blood:
2	chr12:57029847..57032338-chr12:57145228..57146729,2	MCF-7	breast:
3	chr12:56708298..56710997-chr12:57029134..57031889,3	MCF-7	breast:
4	chr12:57027161..57032164-chr12:57080546..57084524,13	MCF-7	breast:
5	chr12:56992973..56997884-chr12:57027374..57031905,8	K562	blood:
6	chr12:57027023..57035553-chr12:57079936..57085201,18	MCF-7	breast:
7	chr12:57028651..57034442-chr12:57080412..57084452,17	K562	blood:
8	chr12:56551730..56554656-chr12:57027945..57032236,3	K562	blood:
9	chr12:57022951..57032187-chr12:57113330..57121462,17	K562	blood:
10	chr12:57029325..57031901-chr12:57117186..57120147,2	K562	blood:
11	chr12:57028905..57032364-chr12:57143305..57146712,4	K562	blood:
12	chr12:57030738..57032351-chr12:57063762..57066016,2	K562	blood:
13	chr12:57026523..57033046-chr12:57115223..57120839,17	MCF-7	breast:
14	chr12:57029241..57032243-chr12:57118930..57120997,3	MCF-7	breast:
15	chr12:57007109..57010688-chr12:57028709..57032558,4	K562	blood:

No data

Variant related genes	Relation type
BAZ2A	TF binding region
ENSG00000257809	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000241217	Chromatin interaction

rs_ID	r²[population]
rs11830013	1.00[AMR][1000 genomes]
rs11830415	1.00[AMR][1000 genomes]
rs11830865	1.00[AMR][1000 genomes]
rs11832786	1.00[AMR][1000 genomes]
rs11835916	1.00[AMR][1000 genomes]
rs58051650	1.00[AMR][1000 genomes]
rs58783710	1.00[AMR][1000 genomes]
rs59501151	1.00[AMR][1000 genomes]
rs74091642	1.00[AMR][1000 genomes]
rs74091895	1.00[AMR][1000 genomes]
rs74093907	1.00[AMR][1000 genomes]
rs74095031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57030400-57032400	Weak transcription	Ovary	ovary
2	chr12:57030400-57038600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:57030600-57031800	Weak transcription	Aorta	Aorta
4	chr12:57030600-57031800	Weak transcription	Gastric	stomach
5	chr12:57030600-57031800	Weak transcription	Pancreas	Pancrea
6	chr12:57030600-57032000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:57030600-57032000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
8	chr12:57030600-57032000	Weak transcription	Psoas Muscle	Psoas
9	chr12:57030600-57032200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:57030600-57035400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:57030600-57036800	Weak transcription	Right Atrium	heart
12	chr12:57030800-57031800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr12:57030800-57031800	Genic enhancers	Fetal Thymus	thymus
14	chr12:57030800-57032200	Genic enhancers	Rectal Smooth Muscle	rectum
15	chr12:57030800-57037200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:57031000-57031800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:57031000-57031800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:57031000-57031800	Genic enhancers	Adipose Nuclei	Adipose
19	chr12:57031000-57031800	Genic enhancers	HMEC	breast
20	chr12:57031000-57032000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:57031000-57032200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:57031000-57032200	Genic enhancers	Hela-S3	cervix
23	chr12:57031000-57032200	Genic enhancers	K562	blood
24	chr12:57031000-57034600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:57031200-57031800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:57031200-57031800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:57031200-57031800	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr12:57031200-57031800	Genic enhancers	Primary hematopoietic stem cells	blood
29	chr12:57031200-57031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:57031200-57031800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:57031200-57031800	Genic enhancers	Colon Smooth Muscle	Colon
32	chr12:57031200-57031800	Genic enhancers	Rectal Mucosa Donor 31	rectum
33	chr12:57031200-57031800	Genic enhancers	NHEK	skin
34	chr12:57031200-57032000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:57031200-57032200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:57031200-57032200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:57031200-57032400	Genic enhancers	Liver	Liver
38	chr12:57031200-57033000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:57031200-57034400	Genic enhancers	Fetal Heart	heart
40	chr12:57031200-57034600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:57031200-57035600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:57031200-57036400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:57031400-57031800	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr12:57031400-57031800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:57031400-57031800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
46	chr12:57031400-57031800	Genic enhancers	Primary B cells from cord blood	blood
47	chr12:57031400-57031800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:57031400-57031800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:57031400-57031800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:57031400-57031800	Genic enhancers	Fetal Muscle Leg	muscle

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