Variant report

Variant	rs1648820
Chromosome Location	chr15:42209923-42209924
allele	A/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	FOSL1	chr15:42209592-42210514	HCT-116	colon:	n/a	chr15:42210338-42210348 chr15:42210054-42210063 chr15:42209756-42209765 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210338-42210348 chr15:42209755-42209765 chr15:42210053-42210064 chr15:42210338-42210348 chr15:42210054-42210064 chr15:42210055-42210064
2	MAX	chr15:42209891-42210434	A549	lung:	n/a	chr15:42210128-42210139
3	JUND	chr15:42209776-42210319	K562	blood:	n/a	chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210053-42210064 chr15:42210054-42210064 chr15:42210055-42210064
4	JUN	chr15:42209872-42210235	K562	blood:	n/a	chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210054-42210064 chr15:42210055-42210064
5	JUN	chr15:42209779-42210249	HUVEC	blood vessel:	n/a	chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210054-42210064 chr15:42210055-42210064
6	POLR2A	chr15:42209849-42210270	SK-N-SH	brain:	n/a	n/a
7	BHLHE40	chr15:42209895-42210418	K562	blood:	n/a	chr15:42210169-42210185
8	FOS	chr15:42209878-42210299	MCF10A-Er-Src	breast:	n/a	chr15:42210053-42210064 chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210054-42210064 chr15:42210055-42210064
9	GATA2	chr15:42209879-42210202	HUVEC	blood vessel:	n/a	chr15:42210056-42210065 chr15:42210041-42210051
10	MYC	chr15:42209870-42210311	K562	blood:	n/a	chr15:42210128-42210139
11	MAX	chr15:42209902-42210424	SK-N-SH	brain:	n/a	chr15:42210128-42210139
12	MAX	chr15:42209898-42210252	K562	blood:	n/a	chr15:42210128-42210139
13	FOS	chr15:42209667-42210270	HUVEC	blood vessel:	n/a	chr15:42210053-42210064 chr15:42210054-42210063 chr15:42209756-42209765 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42209755-42209765 chr15:42210054-42210064 chr15:42210055-42210064
14	CBX3	chr15:42209863-42210275	K562	blood:	n/a	n/a
15	FOS	chr15:42209875-42210250	K562	blood:	n/a	chr15:42210053-42210064 chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210054-42210064 chr15:42210055-42210064
16	JUN	chr15:42209837-42210304	K562	blood:	n/a	chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210054-42210064 chr15:42210055-42210064
17	SP1	chr15:42209732-42210485	HCT-116	colon:	n/a	chr15:42210318-42210332
18	POLR2A	chr15:42209626-42210600	GM12892	blood:	n/a	n/a
19	UBTF	chr15:42209841-42210173	K562	blood:	n/a	n/a
20	JUND	chr15:42209586-42210524	HCT-116	colon:	n/a	chr15:42210338-42210348 chr15:42210054-42210063 chr15:42209756-42209765 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210338-42210348 chr15:42209755-42209765 chr15:42210053-42210064 chr15:42210338-42210348 chr15:42210054-42210064 chr15:42210055-42210064
21	JUND	chr15:42209669-42210479	SK-N-SH	brain:	n/a	chr15:42210338-42210348 chr15:42210054-42210063 chr15:42209756-42209765 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210338-42210348 chr15:42209755-42209765 chr15:42210053-42210064 chr15:42210338-42210348 chr15:42210054-42210064 chr15:42210055-42210064
22	POLR2A	chr15:42209895-42210566	GM12878	blood:	n/a	n/a
23	TEAD4	chr15:42209804-42210279	K562	blood:	n/a	n/a
24	JUND	chr15:42209679-42210192	HepG2	liver:	n/a	chr15:42210054-42210063 chr15:42209756-42209765 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42209755-42209765 chr15:42210053-42210064 chr15:42210054-42210064 chr15:42210055-42210064
25	MAX	chr15:42209843-42210401	K562	blood:	n/a	chr15:42210128-42210139
26	FOS	chr15:42209897-42210247	MCF10A-Er-Src	breast:	n/a	chr15:42210053-42210064 chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210054-42210064 chr15:42210055-42210064
27	POLR2A	chr15:42209758-42212774	GM12892	blood:	n/a	n/a
28	ATF1	chr15:42209865-42210212	K562	blood:	n/a	n/a
29	FOSL2	chr15:42209864-42210298	MCF-7	breast:	n/a	chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210054-42210064 chr15:42210055-42210064
30	TCF12	chr15:42209706-42210428	SK-N-SH	brain:	n/a	chr15:42210173-42210183
31	POLR2A	chr15:42209786-42212072	GM12878	blood:	n/a	n/a
32	EP300	chr15:42209893-42210203	K562	blood:	n/a	chr15:42210055-42210064
33	USF1	chr15:42209826-42210618	HCT-116	colon:	n/a	chr15:42210169-42210185
34	JUN	chr15:42209913-42210245	K562	blood:	n/a	chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210054-42210064 chr15:42210055-42210064
35	JUND	chr15:42209808-42210225	Hela-S3	cervix:	n/a	chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210053-42210064 chr15:42210054-42210064 chr15:42210055-42210064
36	MAX	chr15:42209712-42210585	HCT-116	colon:	n/a	chr15:42209755-42209764 chr15:42210128-42210139
37	TCF12	chr15:42209650-42210465	SK-N-SH	brain:	n/a	chr15:42210173-42210183 chr15:42210447-42210456
38	MAZ	chr15:42209918-42210209	K562	blood:	n/a	chr15:42210128-42210139
39	FOSL1	chr15:42209736-42210425	HCT-116	colon:	n/a	chr15:42210338-42210348 chr15:42210054-42210063 chr15:42209756-42209765 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210338-42210348 chr15:42209755-42209765 chr15:42210053-42210064 chr15:42210338-42210348 chr15:42210054-42210064 chr15:42210055-42210064
40	GATA3	chr15:42209661-42210376	SK-N-SH	brain:	n/a	chr15:42210301-42210310 chr15:42210056-42210065 chr15:42210041-42210051
41	JUN	chr15:42209876-42210203	K562	blood:	n/a	chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210054-42210064 chr15:42210055-42210064
42	JUND	chr15:42209717-42210494	HCT-116	colon:	n/a	chr15:42210338-42210348 chr15:42210054-42210063 chr15:42209756-42209765 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210338-42210348 chr15:42209755-42209765 chr15:42210053-42210064 chr15:42210338-42210348 chr15:42210054-42210064 chr15:42210055-42210064
43	USF1	chr15:42209913-42210360	K562	blood:	n/a	chr15:42210169-42210185
44	POLR2A	chr15:42209705-42212218	GM12892	blood:	n/a	n/a
45	ELF1	chr15:42209851-42210195	K562	blood:	n/a	chr15:42210028-42210041
46	USF1	chr15:42209869-42210381	SK-N-SH	brain:	n/a	chr15:42210169-42210185
47	POLR2A	chr15:42209849-42210209	HUVEC	blood vessel:	n/a	n/a
48	MAX	chr15:42209831-42210346	SK-N-SH	brain:	n/a	chr15:42210128-42210139
49	FOSL1	chr15:42209910-42210211	K562	blood:	n/a	chr15:42210054-42210063 chr15:42210053-42210065 chr15:42210055-42210062 chr15:42210053-42210064 chr15:42210054-42210064 chr15:42210055-42210064
50	RCOR1	chr15:42209877-42210245	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42200852..42203519-chr15:42209900..42211491,2	K562	blood:
2	chr15:42209684..42211751-chr15:42216402..42218970,2	MCF-7	breast:
3	chr15:42207550..42209850-chr15:42209914..42212582,2	MCF-7	breast:
4	chr15:42208548..42210300-chr15:42220851..42222621,2	K562	blood:

Variant related genes	Relation type
ENSG00000259883	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1025227	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1030417	0.91[ASW][hapmap];0.89[LWK][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1197656	1.00[EUR][1000 genomes]
rs1197676	1.00[EUR][1000 genomes]
rs1197678	1.00[EUR][1000 genomes]
rs1197695	1.00[EUR][1000 genomes]
rs1197696	1.00[EUR][1000 genomes]
rs1197698	1.00[EUR][1000 genomes]
rs1201692	1.00[EUR][1000 genomes]
rs1451047	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1530836	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1614205	1.00[EUR][1000 genomes]
rs1621597	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1648808	0.82[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1648812	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1648813	0.96[AFR][1000 genomes]
rs1648819	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1668566	1.00[EUR][1000 genomes]
rs1668590	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1668591	1.00[EUR][1000 genomes]
rs1704402	1.00[TSI][hapmap]
rs1704408	1.00[EUR][1000 genomes]
rs1704409	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2665209	1.00[EUR][1000 genomes]
rs2724932	1.00[EUR][1000 genomes]
rs57032192	1.00[EUR][1000 genomes]
rs6493009	1.00[EUR][1000 genomes]
rs73410628	1.00[EUR][1000 genomes]
rs890497	1.00[EUR][1000 genomes]
rs890499	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs890500	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
5	nsv904125	chr15:42119900-42210393	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
7	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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	59 gene(s)	inside rSNPs	diseases
8	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv976926	chr15:42202094-42217599	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42187200-42211800	Weak transcription	Small Intestine	intestine
2	chr15:42190400-42218600	Weak transcription	Fetal Lung	lung
3	chr15:42197200-42210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:42197200-42210800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:42197200-42218600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:42197400-42218600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:42198200-42212000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:42198800-42212000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr15:42199000-42212600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:42201200-42225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:42201800-42210800	Weak transcription	Thymus	Thymus
12	chr15:42201800-42211000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr15:42201800-42211600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:42202000-42210000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:42202200-42210000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:42202200-42210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:42202200-42210600	Weak transcription	HepG2	liver
18	chr15:42202200-42218400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:42202200-42218600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:42202200-42225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:42204000-42210000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:42204000-42217600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:42204200-42210000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:42204200-42212000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr15:42204400-42210800	Weak transcription	Aorta	Aorta
26	chr15:42204600-42210000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:42204600-42210000	Weak transcription	Colonic Mucosa	Colon
28	chr15:42204600-42210000	Weak transcription	Gastric	stomach
29	chr15:42205200-42210200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:42205800-42210000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:42207800-42210600	Enhancers	Brain Substantia Nigra	brain
32	chr15:42208000-42210800	Genic enhancers	Adipose Nuclei	Adipose
33	chr15:42208200-42210400	Genic enhancers	HSMM	muscle
34	chr15:42208200-42210800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:42208200-42211000	Genic enhancers	HMEC	breast
36	chr15:42208200-42212000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:42208200-42212000	Strong transcription	Primary T cells from cord blood	blood
38	chr15:42208200-42212000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr15:42208200-42212000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:42208400-42210200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:42208400-42212000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:42208400-42212000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr15:42208400-42212000	Genic enhancers	Fetal Muscle Leg	muscle
44	chr15:42208400-42212000	Genic enhancers	Lung	lung
45	chr15:42208400-42212800	Genic enhancers	Placenta	Placenta
46	chr15:42208400-42214400	Enhancers	Right Atrium	heart
47	chr15:42208400-42214800	Enhancers	Ovary	ovary
48	chr15:42208400-42218800	Genic enhancers	HUVEC	blood vessel
49	chr15:42208600-42210200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr15:42208600-42211200	Enhancers	Placenta Amnion	Placenta Amnion

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