Variant report

Variant	rs74093103
Chromosome Location	chr12:57608500-57608501
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	CTCF	chr12:57608500-57608650	HRPEpiC	eye:	n/a	chr12:57608634-57608647 chr12:57608636-57608646 chr12:57608631-57608649 chr12:57608634-57608643
2	POLR2A	chr12:57606903-57610506	U87	brain:	n/a	n/a
3	CTBP2	chr12:57607083-57608538	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr12:57607124-57608551	ECC-1	luminal epithelium:	n/a	chr12:57608410-57608420 chr12:57607780-57607788 chr12:57607687-57607694
5	CTCF	chr12:57608060-57608638	GM19238	blood:	n/a	chr12:57608254-57608263 chr12:57608251-57608269 chr12:57608252-57608268
6	CTCF	chr12:57608476-57608563	GM10266	blood:	n/a	n/a
7	POLR2A	chr12:57607153-57610401	U87	brain:	n/a	n/a
8	POLR2A	chr12:57608000-57608998	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr12:57607920-57608537	HCT-116	colon:	n/a	chr12:57608252-57608271 chr12:57608253-57608267 chr12:57608253-57608262
10	POLR2A	chr12:57607918-57608751	PFSK-1	brain:	n/a	n/a
11	SMC3	chr12:57607908-57608806	SK-N-SH	brain:	n/a	chr12:57608637-57608647 chr12:57608633-57608647 chr12:57608253-57608267 chr12:57608253-57608260 chr12:57608636-57608644
12	POLR2A	chr12:57607125-57608981	HepG2	liver:	n/a	n/a
13	RAD21	chr12:57607972-57608501	MCF-7	breast:	n/a	chr12:57608252-57608271 chr12:57608253-57608267 chr12:57608253-57608262
14	CTCF	chr12:57608500-57608650	GM12870	blood:	n/a	chr12:57608634-57608647 chr12:57608636-57608646 chr12:57608631-57608649 chr12:57608634-57608643
15	POLR2A	chr12:57608102-57609083	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr12:57608481-57608712	H1-hESC	embryonic stem cell:	n/a	chr12:57608634-57608647 chr12:57608636-57608646 chr12:57608631-57608649 chr12:57608633-57608654 chr12:57608634-57608643
17	POLR2A	chr12:57607821-57609042	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:57607923-57608562	K562	blood:	n/a	chr12:57608254-57608263 chr12:57608251-57608269 chr12:57608252-57608268
19	POLR2A	chr12:57607145-57608931	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:57607241-57609488	HepG2	liver:	n/a	n/a
21	CTCF	chr12:57608499-57608573	NHEK	skin:	n/a	n/a
22	CTCF	chr12:57608480-57608630	WERI-Rb-1	eye:	n/a	n/a
23	POLR2A	chr12:57606909-57610500	U87	brain:	n/a	n/a
24	RFX5	chr12:57607830-57610239	SK-N-SH	brain:	n/a	chr12:57609655-57609664 chr12:57609652-57609667 chr12:57609653-57609667
25	RAD21	chr12:57606935-57608753	HCT-116	colon:	n/a	chr12:57608252-57608271 chr12:57607747-57607761 chr12:57608253-57608267 chr12:57607252-57607265 chr12:57608253-57608262 chr12:57607341-57607353 chr12:57608632-57608651 chr12:57607236-57607255 chr12:57608637-57608647
26	RFX5	chr12:57606888-57610516	IMR90	lung:	n/a	chr12:57609655-57609664 chr12:57609652-57609667 chr12:57609653-57609667
27	RAD21	chr12:57607748-57608616	SK-N-SH	brain:	n/a	chr12:57608252-57608271 chr12:57608253-57608267 chr12:57608253-57608262
28	ATF2	chr12:57607959-57608528	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF12	chr12:57607796-57608519	A549	lung:	n/a	chr12:57608410-57608420
30	CTCF	chr12:57608470-57608604	GM12892	blood:	n/a	n/a
31	CTCF	chr12:57606638-57608714	A549	lung:	n/a	chr12:57608634-57608647 chr12:57608636-57608646 chr12:57608254-57608263 chr12:57608631-57608649 chr12:57608633-57608654 chr12:57607238-57607247 chr12:57607235-57607253 chr12:57608251-57608269 chr12:57607237-57607258 chr12:57608252-57608268 chr12:57608634-57608643
32	YY1	chr12:57607950-57608518	H1-hESC	embryonic stem cell:	n/a	n/a
33	FOSL2	chr12:57607050-57608658	HepG2	liver:	n/a	n/a
34	ZBTB7A	chr12:57608043-57608631	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr12:57607774-57608542	SK-N-MC	brain:	n/a	n/a
36	CTCF	chr12:57606645-57608913	HCT-116	colon:	n/a	chr12:57608634-57608647 chr12:57608636-57608646 chr12:57608254-57608263 chr12:57608631-57608649 chr12:57608633-57608654 chr12:57607238-57607247 chr12:57607235-57607253 chr12:57608251-57608269 chr12:57607237-57607258 chr12:57608252-57608268 chr12:57608634-57608643
37	RAD21	chr12:57607928-57608548	ECC-1	luminal epithelium:	n/a	chr12:57608252-57608271 chr12:57608253-57608267 chr12:57608253-57608262
38	CTCF	chr12:57607962-57608550	MCF-7	breast:	n/a	chr12:57608254-57608263 chr12:57608251-57608269 chr12:57608252-57608268
39	SP4	chr12:57608007-57608552	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr12:57606279-57609127	SK-N-SH	brain:	n/a	chr12:57608634-57608647 chr12:57608636-57608646 chr12:57608254-57608263 chr12:57608631-57608649 chr12:57608633-57608654 chr12:57607238-57607247 chr12:57607235-57607253 chr12:57608251-57608269 chr12:57607237-57607258 chr12:57608252-57608268 chr12:57608634-57608643
41	CTCF	chr12:57608040-57608597	K562	blood:	n/a	chr12:57608254-57608263 chr12:57608251-57608269 chr12:57608252-57608268
42	CTCF	chr12:57607884-57608581	MCF-7	breast:	n/a	chr12:57608254-57608263 chr12:57608251-57608269 chr12:57608252-57608268
43	CTCF	chr12:57608076-57608643	GM12891	blood:	n/a	chr12:57608254-57608263 chr12:57608251-57608269 chr12:57608252-57608268 chr12:57608634-57608643
44	POLR2A	chr12:57608101-57608847	H1-neurons	neurons:	n/a	n/a
45	CTCF	chr12:57608500-57608650	GM12869	blood:	n/a	chr12:57608634-57608647 chr12:57608636-57608646 chr12:57608631-57608649 chr12:57608634-57608643
46	CTCF	chr12:57607862-57608617	HCT-116	colon:	n/a	chr12:57608254-57608263 chr12:57608251-57608269 chr12:57608252-57608268
47	ATF2	chr12:57607817-57608513	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr12:57607153-57610353	U87	brain:	n/a	n/a
49	POLR2A	chr12:57608406-57608714	ProgFib	skin:	n/a	n/a
50	CTCF	chr12:57607958-57608510	A549	lung:	n/a	chr12:57608254-57608263 chr12:57608251-57608269 chr12:57608252-57608268

No.	Distal block	Cell Line	Cell type
1	chr12:57480154..57482467-chr12:57605881..57608725,2	K562	blood:
2	chr12:57606014..57610025-chr12:57631623..57633806,36	MCF-7	breast:
3	chr12:57607877..57611743-chr12:57643490..57646687,3	K562	blood:
4	chr12:57606792..57609175-chr12:57630908..57633525,50	K562	blood:
5	chr12:57607441..57608995-chr12:57610521..57612256,2	MCF-7	breast:
6	chr12:57588577..57592670-chr12:57606671..57608811,3	K562	blood:
7	chr12:57588577..57590373-chr12:57606431..57608754,2	K562	blood:
8	chr12:57595870..57598070-chr12:57607882..57609452,2	K562	blood:
9	chr12:57608303..57611284-chr12:57611816..57613934,2	MCF-7	breast:
10	chr12:57608166..57609235-chr12:57637200..57637869,4	MCF-7	breast:
11	chr12:57606546..57610160-chr12:57612220..57614034,3	K562	blood:
12	chr12:57606466..57609055-chr12:57636459..57638396,24	K562	blood:
13	chr12:57578786..57581016-chr12:57606054..57608817,2	MCF-7	breast:
14	chr12:57606205..57609184-chr12:57636393..57638193,29	MCF-7	breast:
15	chr12:57607241..57608791-chr12:57610365..57612075,2	K562	blood:

Variant related genes	Relation type
NXPH4	TF binding region
ENSG00000123384	Chromatin interaction
ENSG00000182379	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000185482	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11172219	1.00[EUR][1000 genomes]
rs11557166	1.00[EUR][1000 genomes]
rs17854829	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28365863	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34248177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34343116	0.80[ASN][1000 genomes]
rs34950222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35021926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56273568	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978619	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62620661	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7304504	1.00[EUR][1000 genomes]
rs74093104	1.00[EUR][1000 genomes]
rs74093113	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74093115	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74093117	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv869636	chr12:57590172-57613714	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv899116	chr12:57597169-57623363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57585800-57608600	Strong transcription	NHLF	lung
2	chr12:57603200-57610200	Weak transcription	Right Atrium	heart
3	chr12:57605800-57609400	Weak transcription	Lung	lung
4	chr12:57606400-57610200	Weak transcription	Aorta	Aorta
5	chr12:57606600-57608600	Enhancers	Fetal Brain Male	brain
6	chr12:57606600-57608600	Enhancers	Left Ventricle	heart
7	chr12:57606800-57608600	Enhancers	A549	lung
8	chr12:57606800-57609000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:57606800-57609400	Weak transcription	Gastric	stomach
10	chr12:57606800-57609600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr12:57606800-57609600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:57606800-57609600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:57606800-57609800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr12:57606800-57610200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
15	chr12:57606800-57610200	Enhancers	Pancreas	Pancrea
16	chr12:57607000-57609200	Weak transcription	Liver	Liver
17	chr12:57607000-57609800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:57607200-57608600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:57607200-57608600	Bivalent Enhancer	Fetal Thymus	thymus
20	chr12:57607200-57608600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
21	chr12:57607200-57608800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
22	chr12:57607200-57609600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:57607200-57610000	Enhancers	Right Ventricle	heart
24	chr12:57607200-57610800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:57607400-57609200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:57607400-57609400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr12:57607400-57609600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr12:57607400-57609600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:57607400-57609600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr12:57607400-57609600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
31	chr12:57607400-57609800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr12:57607400-57609800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr12:57607400-57610200	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr12:57607600-57608600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:57607600-57608600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
36	chr12:57607600-57608600	Weak transcription	NHDF-Ad	bronchial
37	chr12:57607600-57609800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
38	chr12:57607600-57610200	Weak transcription	Ovary	ovary
39	chr12:57607800-57608600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:57607800-57608600	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr12:57607800-57608600	Enhancers	HepG2	liver
42	chr12:57607800-57608800	Bivalent Enhancer	Dnd41	blood
43	chr12:57607800-57609600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr12:57607800-57609800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:57607800-57610200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr12:57608000-57608600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:57608000-57608600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
48	chr12:57608000-57608600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:57608000-57608800	Bivalent Enhancer	Fetal Heart	heart
50	chr12:57608000-57608800	Bivalent Enhancer	Fetal Stomach	stomach

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