Variant report

Variant	rs73338505
Chromosome Location	chr12:57504529-57504530
allele	C/T
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	chr12:57503549-57506510	PFSK-1	brain:	n/a	n/a
2	RCOR1	chr12:57503999-57506484	Hela-S3	cervix:	n/a	n/a
3	MTA3	chr12:57504082-57504814	GM12878	blood:	n/a	n/a
4	RAD21	chr12:57503964-57506772	HCT-116	colon:	n/a	chr12:57506272-57506291 chr12:57504562-57504572 chr12:57506275-57506288 chr12:57506276-57506286 chr12:57506274-57506286 chr12:57504560-57504572
5	POLR2A	chr12:57503962-57506479	Raji	blood:	n/a	n/a
6	POLR2A	chr12:57504310-57504701	A549	lung:	n/a	n/a
7	POLR2A	chr12:57503263-57506255	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:57503980-57506410	HL-60	blood:	n/a	n/a
9	RELA	chr12:57504021-57506487	GM10847	blood:	n/a	chr12:57504442-57504451 chr12:57504442-57504451
10	YY1	chr12:57504112-57504719	GM12878	blood:	n/a	chr12:57504328-57504342 chr12:57504700-57504711 chr12:57504381-57504390 chr12:57504334-57504345
11	POLR2A	chr12:57503899-57506504	HCT-116	colon:	n/a	n/a
12	WRNIP1	chr12:57503667-57504745	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:57503787-57506377	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr12:57503770-57506732	A549	lung:	n/a	chr12:57506277-57506287 chr12:57506274-57506292 chr12:57506276-57506289 chr12:57505530-57505543 chr12:57506280-57506289 chr12:57506269-57506290
15	NR2F2	chr12:57504014-57506608	K562	blood:	n/a	n/a
16	POLR2A	chr12:57503861-57506420	HL-60	blood:	n/a	n/a
17	BHLHE40	chr12:57504211-57506523	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:57504053-57504788	U87	brain:	n/a	n/a
19	HEY1	chr12:57503927-57505966	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:57503937-57506195	HUVEC	blood vessel:	n/a	n/a
21	MXI1	chr12:57504124-57506661	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:57504008-57506146	K562	blood:	n/a	n/a
23	RELA	chr12:57504136-57506514	GM19193	blood:	n/a	chr12:57504442-57504451 chr12:57504442-57504451
24	MYC	chr12:57503990-57506537	NB4	blood:	n/a	chr12:57505284-57505293 chr12:57505018-57505028 chr12:57505282-57505289 chr12:57505281-57505290 chr12:57505280-57505295 chr12:57505280-57505290
25	MXI1	chr12:57503819-57506989	IMR90	lung:	n/a	n/a
26	RELA	chr12:57504142-57506377	GM12892	blood:	n/a	chr12:57504442-57504451 chr12:57504442-57504451
27	POLR2A	chr12:57504485-57504748	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr12:57504043-57504982	A549	lung:	n/a	n/a
29	POLR2A	chr12:57504000-57506315	GM15510	blood:	n/a	n/a
30	POLR2A	chr12:57504077-57506253	GM12878	blood:	n/a	n/a
31	TBP	chr12:57504038-57506473	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr12:57503888-57506322	GM18505	blood:	n/a	n/a
33	MYC	chr12:57504049-57506507	K562	blood:	n/a	chr12:57505284-57505293 chr12:57505018-57505028 chr12:57505282-57505289 chr12:57505281-57505290 chr12:57505280-57505295 chr12:57505280-57505290
34	STAT1	chr12:57503957-57506424	GM12878	blood:	n/a	chr12:57505650-57505662 chr12:57504117-57504129 chr12:57504633-57504645 chr12:57504673-57504685 chr12:57504334-57504346
35	POLR2A	chr12:57503679-57506503	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:57503440-57506280	GM12878	blood:	n/a	n/a
37	ELF1	chr12:57503886-57506411	GM12878	blood:	n/a	chr12:57505230-57505241
38	POLR2A	chr12:57503850-57506271	HUVEC	blood vessel:	n/a	n/a
39	MAZ	chr12:57503971-57507229	IMR90	lung:	n/a	chr12:57506884-57506900 chr12:57505284-57505293 chr12:57505018-57505028 chr12:57506881-57506891 chr12:57505282-57505289 chr12:57505281-57505290 chr12:57506880-57506895 chr12:57505280-57505295 chr12:57506878-57506893
40	POLR2A	chr12:57504083-57506146	NB4	blood:	n/a	n/a
41	POLR2A	chr12:57503916-57506295	GM12892	blood:	n/a	n/a
42	POLR2A	chr12:57503941-57504578	SK-N-MC	brain:	n/a	n/a
43	FOSL2	chr12:57504084-57504754	A549	lung:	n/a	n/a
44	STAT3	chr12:57504340-57504540	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:57503873-57504631	K562	blood:	n/a	n/a
46	MAX	chr12:57503961-57506539	K562	blood:	n/a	chr12:57505284-57505293 chr12:57505018-57505028 chr12:57505282-57505289 chr12:57505281-57505290 chr12:57505280-57505295 chr12:57505280-57505290
47	MAX	chr12:57503967-57504897	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr12:57503950-57504541	K562	blood:	n/a	n/a
49	REST	chr12:57504009-57506423	A549	lung:	n/a	chr12:57504496-57504509 chr12:57506102-57506115
50	POLR2A	chr12:57504073-57505920	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57504441..57505028-chr14:102430690..102431652,2	Hela-S3	cervix:
2	chr12:57504130..57505011-chr12:57521671..57522655,2	Hela-S3	cervix:
3	chr12:57503797..57506520-chr12:57514818..57516320,2	K562	blood:
4	chr12:57504145..57507554-chr12:57578690..57582057,3	MCF-7	breast:
5	chr12:57503986..57506964-chr12:57847315..57851029,3	K562	blood:
6	chr12:57117747..57120933-chr12:57504153..57507822,3	MCF-7	breast:
7	chr12:57145013..57147462-chr12:57502866..57505810,2	K562	blood:
8	chr11:65625220..65626084-chr12:57504283..57505118,2	Hela-S3	cervix:
9	chr12:57504297..57506736-chr12:57913264..57915546,2	MCF-7	breast:
10	chr12:57504309..57505164-chr15:65588332..65589091,2	Hela-S3	cervix:
11	chr12:57503797..57505654-chr12:57514818..57516487,2	K562	blood:
12	chr12:57399687..57402362-chr12:57503183..57504772,2	K562	blood:
13	chr12:57503926..57506470-chr12:57520172..57522484,3	MCF-7	breast:
14	chr12:57503657..57505571-chr12:57633144..57635959,2	MCF-7	breast:

Variant related genes	Relation type
STAT6	TF binding region
ENSG00000166987	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000263832	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166860	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000197102	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000185633	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11172112	0.83[EUR][1000 genomes]
rs12307379	0.84[EUR][1000 genomes]
rs56214329	0.96[EUR][1000 genomes]
rs7306742	0.83[EUR][1000 genomes]
rs73118440	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers 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	103 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	chr12:57502800-57505400	Active TSS	GM12878-XiMat	blood
2	chr12:57502800-57506400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:57503000-57505800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:57503200-57504800	Flanking Active TSS	Fetal Thymus	thymus
5	chr12:57503200-57505200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr12:57503200-57505400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:57503200-57505800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:57503200-57505800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:57503200-57506000	Active TSS	Ovary	ovary
10	chr12:57503200-57506200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:57503200-57506400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr12:57503200-57506600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:57503400-57504800	Flanking Active TSS	Dnd41	blood
14	chr12:57503400-57505400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:57503400-57505800	Active TSS	NHLF	lung
16	chr12:57503400-57506200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:57503400-57506400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr12:57503400-57506400	Active TSS	Right Atrium	heart
19	chr12:57503400-57506600	Active TSS	Fetal Kidney	kidney
20	chr12:57503400-57506800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr12:57503600-57504600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:57503600-57504800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:57503600-57504800	Active TSS	Brain Cingulate Gyrus	brain
24	chr12:57503600-57504800	Flanking Active TSS	K562	blood
25	chr12:57503600-57505400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr12:57503600-57505600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:57503600-57505800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:57503600-57506000	Active TSS	Aorta	Aorta
29	chr12:57503600-57506200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:57503600-57506200	Enhancers	Fetal Brain Male	brain
31	chr12:57503600-57506200	Active TSS	Psoas Muscle	Psoas
32	chr12:57503600-57506200	Flanking Active TSS	HUVEC	blood vessel
33	chr12:57503600-57506400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:57503600-57506400	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr12:57503600-57506400	Flanking Active TSS	Placenta	Placenta
36	chr12:57503600-57506600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr12:57503800-57505000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:57503800-57505400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:57503800-57505600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:57503800-57505600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:57503800-57505600	Active TSS	Brain Anterior Caudate	brain
42	chr12:57503800-57505600	Active TSS	NHDF-Ad	bronchial
43	chr12:57503800-57506200	Active TSS	Colon Smooth Muscle	Colon
44	chr12:57503800-57506200	Flanking Active TSS	NH-A	brain
45	chr12:57503800-57506400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr12:57503800-57506400	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr12:57504000-57504600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:57504000-57504600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:57504000-57504800	Active TSS	Stomach Smooth Muscle	stomach
50	chr12:57504000-57505000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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