Variant report

Variant	rs74023998
Chromosome Location	chr15:75746198-75746199
allele	A/C
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	ELF1	chr15:75746116-75746773	HepG2	liver:	n/a	chr15:75746445-75746457 chr15:75746290-75746299
2	HEY1	chr15:75745933-75747099	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:75743438-75747374	GM18526	blood:	n/a	n/a
4	POLR2A	chr15:75745706-75746505	SK-N-MC	brain:	n/a	n/a
5	MYC	chr15:75742769-75748166	K562	blood:	n/a	chr15:75746442-75746452 chr15:75743410-75743420 chr15:75745344-75745353 chr15:75747384-75747394 chr15:75743317-75743327 chr15:75743090-75743100
6	GATA3	chr15:75744072-75747405	A549	lung:	n/a	chr15:75745656-75745664
7	POLR2A	chr15:75745907-75747595	Hela-S3	cervix:	n/a	n/a
8	ZNF143	chr15:75746000-75746810	Hela-S3	cervix:	n/a	chr15:75746798-75746808 chr15:75746385-75746403
9	MAZ	chr15:75746056-75748764	K562	blood:	n/a	chr15:75746442-75746452 chr15:75747384-75747394
10	MXI1	chr15:75746121-75747313	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr15:75743608-75747480	GM12892	blood:	n/a	n/a
12	POLR2A	chr15:75746168-75746335	A549	lung:	n/a	n/a
13	CHD1	chr15:75742311-75749635	IMR90	lung:	n/a	chr15:75746254-75746264 chr15:75743636-75743646 chr15:75747775-75747785 chr15:75747345-75747355
14	POLR2A	chr15:75744257-75746497	GM12891	blood:	n/a	n/a
15	ZMIZ1	chr15:75745915-75746835	K562	blood:	n/a	n/a
16	CTCF	chr15:75746160-75746310	GM12871	blood:	n/a	n/a
17	PBX3	chr15:75746020-75747252	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr15:75742468-75748864	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr15:75743796-75747292	GM12891	blood:	n/a	n/a
20	CREB1	chr15:75745964-75747138	K562	blood:	n/a	n/a
21	CCNT2	chr15:75746192-75748470	K562	blood:	n/a	chr15:75746256-75746265 chr15:75747106-75747115 chr15:75747418-75747427
22	NFIC	chr15:75746010-75746673	HepG2	liver:	n/a	n/a
23	TCF7L2	chr15:75746075-75746699	Hela-S3	cervix:	n/a	n/a
24	TBP	chr15:75746133-75746929	HepG2	liver:	n/a	n/a
25	CHD2	chr15:75746025-75747373	GM12878	blood:	n/a	chr15:75746254-75746264 chr15:75747345-75747355
26	YY1	chr15:75745714-75746547	GM12892	blood:	n/a	chr15:75746444-75746453 chr15:75746256-75746265
27	CBX3	chr15:75745866-75746814	K562	blood:	n/a	n/a
28	TBL1XR1	chr15:75745704-75746360	K562	blood:	n/a	n/a
29	SPI1	chr15:75746172-75746521	K562	blood:	n/a	chr15:75746252-75746265
30	MAFK	chr15:75745901-75746554	K562	blood:	n/a	n/a
31	SIN3A	chr15:75745880-75748786	GM12878	blood:	n/a	chr15:75747562-75747575 chr15:75748111-75748119
32	MAX	chr15:75744792-75747394	SK-N-SH	brain:	n/a	chr15:75746442-75746452 chr15:75745344-75745353 chr15:75747384-75747394
33	E2F4	chr15:75746128-75746641	GM12878	blood:	n/a	chr15:75746253-75746265 chr15:75746256-75746265 chr15:75746364-75746373
34	HEY1	chr15:75746045-75746486	HepG2	liver:	n/a	n/a
35	POLR2A	chr15:75743699-75747421	K562	blood:	n/a	n/a
36	MYC	chr15:75744209-75746962	K562	blood:	n/a	chr15:75746442-75746452 chr15:75745344-75745353
37	MAX	chr15:75745981-75746574	H1-hESC	embryonic stem cell:	n/a	chr15:75746442-75746452
38	POLR2A	chr15:75743623-75747364	K562	blood:	n/a	n/a
39	HEY1	chr15:75744164-75748809	K562	blood:	n/a	chr15:75747923-75747938 chr15:75744695-75744710 chr15:75747087-75747102
40	ZBTB33	chr15:75746031-75746441	A549	lung:	n/a	n/a
41	RELA	chr15:75743763-75747357	GM12891	blood:	n/a	chr15:75744037-75744046 chr15:75747223-75747232 chr15:75747223-75747232 chr15:75744037-75744046
42	FOS	chr15:75746188-75746790	K562	blood:	n/a	chr15:75746434-75746443 chr15:75746363-75746372 chr15:75746257-75746266
43	POLR2A	chr15:75743935-75746516	GM12891	blood:	n/a	n/a
44	REST	chr15:75746119-75746455	K562	blood:	n/a	chr15:75746358-75746371 chr15:75746251-75746264
45	ELF1	chr15:75743790-75747271	MCF-7	breast:	n/a	chr15:75744388-75744400 chr15:75747190-75747202 chr15:75747088-75747097 chr15:75746445-75746457 chr15:75747133-75747142 chr15:75747130-75747139 chr15:75744315-75744328 chr15:75746290-75746299
46	MAX	chr15:75746102-75747036	HepG2	liver:	n/a	chr15:75746442-75746452
47	TBP	chr15:75746137-75746875	Hela-S3	cervix:	n/a	n/a
48	SIN3AK20	chr15:75746028-75746500	K562	blood:	n/a	n/a
49	POLR2A	chr15:75745808-75746525	A549	lung:	n/a	n/a
50	BCLAF1	chr15:75744914-75746477	GM12878	blood:	n/a	chr15:75746383-75746392

No.	Distal block	Cell Line	Cell type
1	chr15:75639534..75641718-chr15:75744816..75747084,2	MCF-7	breast:
2	chr15:75744276..75746320-chr20:45987544..45989803,2	MCF-7	breast:
3	chr15:75745404..75749003-chr15:75939962..75944253,7	K562	blood:
4	chr15:75741578..75748624-chr15:75927989..75935113,20	K562	blood:
5	chr15:75657601..75665504-chr15:75739437..75749700,27	K562	blood:
6	chr15:75744964..75747465-chr6:30180922..30182722,2	MCF-7	breast:
7	chr15:75745245..75747070-chr15:75961627..75963847,2	K562	blood:
8	chr15:75743610..75746369-chr15:75937608..75941096,3	K562	blood:
9	chr15:75744354..75750304-chr15:75868474..75873810,11	K562	blood:
10	chr15:75742140..75749687-chr15:75929409..75934974,27	MCF-7	breast:
11	chr15:75743503..75749103-chr15:75916446..75919686,11	K562	blood:
12	chr15:75658070..75664945-chr15:75741625..75749756,25	K562	blood:
13	chr15:75744190..75746911-chr15:75963679..75965801,2	MCF-7	breast:
14	chr15:75746181..75746770-chr7:112090060..112090969,2	Hela-S3	cervix:
15	chr15:75741052..75746522-chr15:75930202..75934500,7	MCF-7	breast:
16	chr15:75134544..75136731-chr15:75744372..75746938,2	MCF-7	breast:
17	chr15:75744565..75747167-chr15:75943528..75946295,2	MCF-7	breast:
18	chr15:75729900..75734080-chr15:75744771..75746662,3	MCF-7	breast:
19	chr15:75745952..75746750-chr17:48943567..48944171,2	Hela-S3	cervix:
20	chr12:120726904..120729847-chr15:75745015..75747081,2	MCF-7	breast:
21	chr15:75741578..75748579-chr15:75928515..75935579,16	K562	blood:
22	chr15:75744318..75747084-chr15:75809053..75812043,2	MCF-7	breast:
23	chr15:75744615..75746777-chr4:41938834..41941720,2	MCF-7	breast:
24	chr15:75745517..75746307-chr7:44645978..44646663,2	Hela-S3	cervix:
25	chr15:75745526..75749103-chr15:75915153..75919928,6	K562	blood:
26	chr15:75721974..75724275-chr15:75744152..75746354,2	K562	blood:
27	chr15:75745181..75746690-chr15:75968871..75970441,2	MCF-7	breast:
28	chr15:75741711..75746813-chr15:75868980..75872679,7	MCF-7	breast:
29	chr15:75656095..75662590-chr15:75739456..75750037,27	MCF-7	breast:
30	chr15:75657484..75665083-chr15:75741604..75749517,41	MCF-7	breast:

Variant related genes	Relation type
SIN3A	TF binding region
ENSG00000260235	Chromatin interaction
ENSG00000169371	Chromatin interaction
ENSG00000173548	Chromatin interaction
ENSG00000177971	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000234127	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000169410	Chromatin interaction
ENSG00000105953	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000260206	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000140398	Chromatin interaction
ENSG00000109133	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11556266	1.00[AMR][1000 genomes]
rs56318551	1.00[AMR][1000 genomes]
rs56993051	1.00[AMR][1000 genomes]
rs58761842	1.00[AMR][1000 genomes]
rs61135277	1.00[AMR][1000 genomes]
rs74023974	1.00[AMR][1000 genomes]
rs74023990	1.00[AMR][1000 genomes]
rs74023995	1.00[AMR][1000 genomes]
rs74026504	1.00[AMR][1000 genomes]
rs74026511	1.00[AMR][1000 genomes]
rs74026512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026514	1.00[AMR][1000 genomes]
rs8029793	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv904388	chr15:75730182-75804543	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv904389	chr15:75739824-75806911	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv827389	chr15:75741918-75749453	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
13	esv3436937	chr15:75745924-75748772	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 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	chr15:75741600-75748800	Active TSS	Ovary	ovary
2	chr15:75741800-75749000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:75742000-75748800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:75742200-75746400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr15:75742200-75748600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:75742200-75748600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:75742200-75748600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr15:75742200-75748600	Active TSS	A549	lung
9	chr15:75742200-75748800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr15:75742200-75748800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr15:75742200-75748800	Active TSS	Fetal Kidney	kidney
12	chr15:75742200-75748800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr15:75742200-75749000	Active TSS	Psoas Muscle	Psoas
14	chr15:75742400-75747200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:75742400-75748600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:75742400-75748600	Active TSS	Left Ventricle	heart
17	chr15:75742400-75748600	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr15:75742400-75748800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr15:75742400-75748800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:75742400-75748800	Active TSS	Right Atrium	heart
21	chr15:75742400-75749000	Active TSS	Fetal Intestine Large	intestine
22	chr15:75742400-75749200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr15:75742600-75748600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:75742600-75748600	Active TSS	Colon Smooth Muscle	Colon
25	chr15:75742600-75748600	Active TSS	GM12878-XiMat	blood
26	chr15:75742600-75748800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:75742600-75748800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:75742600-75748800	Active TSS	Aorta	Aorta
29	chr15:75742600-75748800	Active TSS	Small Intestine	intestine
30	chr15:75742600-75749200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr15:75742600-75749200	Active TSS	Thymus	Thymus
32	chr15:75742800-75748800	Active TSS	Lung	lung
33	chr15:75743000-75747000	Active TSS	Brain Germinal Matrix	brain
34	chr15:75743000-75747200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:75743200-75748600	Active TSS	Gastric	stomach
36	chr15:75744400-75746200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr15:75744400-75746200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr15:75744400-75746200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:75744400-75746200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr15:75744400-75746200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr15:75744400-75746200	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr15:75744400-75746400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr15:75744400-75746400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr15:75744400-75746400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:75744400-75746400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:75744600-75746200	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr15:75744600-75746200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr15:75744600-75746200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr15:75744600-75746200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:75744600-75746200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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