Variant report

Variant	rs7248140
Chromosome Location	chr19:35739466-35739467
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:385)
CpG islands
(count:122)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr19:35738364-35740434	GM12878	blood:	n/a	n/a
2	CREB1	chr19:35738426-35740523	HepG2	liver:	n/a	n/a
3	TAF1	chr19:35739019-35740407	GM12878	blood:	n/a	n/a
4	JUND	chr19:35738575-35739552	A549	lung:	n/a	n/a
5	ELF1	chr19:35738391-35740209	MCF-7	breast:	n/a	chr19:35739566-35739575 chr19:35739565-35739576 chr19:35739565-35739576
6	JUND	chr19:35739410-35740008	HepG2	liver:	n/a	n/a
7	SP1	chr19:35738363-35740122	H1-hESC	embryonic stem cell:	n/a	chr19:35739574-35739588 chr19:35739591-35739600 chr19:35739125-35739139 chr19:35738973-35738980
8	RFX5	chr19:35738388-35740137	Hela-S3	cervix:	n/a	n/a
9	FOXA1	chr19:35738937-35740030	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:35739049-35739474	GM12891	blood:	n/a	n/a
11	SIN3AK20	chr19:35738395-35740428	MCF-7	breast:	n/a	n/a
12	POLR2A	chr19:35738277-35740787	HCT-116	colon:	n/a	n/a
13	POLR2A	chr19:35738510-35740291	Hela-S3	cervix:	n/a	n/a
14	HCFC1	chr19:35738387-35740287	K562	blood:	n/a	n/a
15	E2F4	chr19:35739291-35740120	GM12878	blood:	n/a	chr19:35740106-35740118
16	TCF12	chr19:35739158-35739635	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr19:35738299-35740409	HCT-116	colon:	n/a	chr19:35740274-35740288
18	IRF1	chr19:35738411-35740150	K562	blood:	n/a	chr19:35738743-35738756 chr19:35738743-35738757 chr19:35738746-35738756
19	EGR1	chr19:35738254-35740279	HCT-116	colon:	n/a	chr19:35740248-35740257 chr19:35739206-35739216 chr19:35739470-35739494 chr19:35738608-35738622 chr19:35740103-35740113 chr19:35739565-35739574
20	UBTF	chr19:35738438-35740490	K562	blood:	n/a	n/a
21	MAX	chr19:35738343-35740284	K562	blood:	n/a	chr19:35739208-35739218 chr19:35740104-35740114
22	JUND	chr19:35738728-35740052	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:35738411-35740235	ECC-1	luminal epithelium:	n/a	n/a
24	ZEB1	chr19:35738570-35740404	HepG2	liver:	n/a	chr19:35739368-35739380 chr19:35739369-35739380 chr19:35739400-35739411 chr19:35739546-35739559 chr19:35740028-35740041
25	NFYB	chr19:35738670-35739704	GM12878	blood:	n/a	n/a
26	YY1	chr19:35738552-35740260	HepG2	liver:	n/a	chr19:35739906-35739926
27	POLR2A	chr19:35739105-35740219	HEK293	kidney:	n/a	n/a
28	POLR2A	chr19:35738468-35741259	Hela-S3	cervix:	n/a	n/a
29	MYC	chr19:35738406-35740484	K562	blood:	n/a	chr19:35739208-35739218 chr19:35740104-35740114
30	CTCF	chr19:35739320-35739470	GM12868	blood:	n/a	n/a
31	POLR2A	chr19:35738305-35740223	HCT-116	colon:	n/a	n/a
32	TAF7	chr19:35738312-35740211	H1-hESC	embryonic stem cell:	n/a	n/a
33	TAF1	chr19:35739056-35740221	HepG2	liver:	n/a	n/a
34	MAFK	chr19:35739326-35739965	K562	blood:	n/a	n/a
35	WRNIP1	chr19:35738983-35741180	GM12878	blood:	n/a	n/a
36	CHD2	chr19:35738437-35740609	Hela-S3	cervix:	n/a	chr19:35740222-35740232
37	TAF1	chr19:35739168-35740141	HepG2	liver:	n/a	n/a
38	POLR2A	chr19:35739021-35740223	GM12892	blood:	n/a	n/a
39	PML	chr19:35739162-35739589	GM12878	blood:	n/a	n/a
40	SMC3	chr19:35738446-35740493	Hela-S3	cervix:	n/a	chr19:35738835-35738849 chr19:35738835-35738845
41	MYC	chr19:35738277-35740509	K562	blood:	n/a	chr19:35739208-35739218 chr19:35740104-35740114
42	BHLHE40	chr19:35738376-35740338	GM12878	blood:	n/a	n/a
43	GABPA	chr19:35739400-35739635	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr19:35738497-35740405	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr19:35738488-35740854	HepG2	liver:	n/a	n/a
46	POLR2A	chr19:35738403-35740390	K562	blood:	n/a	n/a
47	GABPA	chr19:35738360-35740176	MCF-7	breast:	n/a	chr19:35738936-35738943
48	EP300	chr19:35738343-35740111	H1-hESC	embryonic stem cell:	n/a	chr19:35739338-35739354 chr19:35739566-35739573
49	GABPA	chr19:35739383-35739634	GM12878	blood:	n/a	n/a
50	NFIC	chr19:35739057-35740151	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:35739461-35739511	U87	brain:	n/a
2	chr19:35739461-35739511	HEK293	kidney:	embryo
3	chr19:35739461-35739511	HCPEpiC	choroid plexus:	n/a
4	chr19:35739461-35739511	NT2-D1	testis:	n/a
5	chr19:35739461-35739511	Hepatocyte	liver:	n/a
6	chr19:35739448-35739498	AG09319	gingival:	n/a
7	chr19:35739461-35739511	SAEC	small airway:	n/a
8	chr19:35739448-35739498	ovcar-3	ovarian:	n/a
9	chr19:35739461-35739511	ProgFib	skin:	n/a
10	chr19:35739448-35739498	RPTEC	kidney:	n/a
11	chr19:35739448-35739498	SKMC	muscle:	n/a
12	chr19:35739461-35739511	HEEpiC	esophagus:	n/a
13	chr19:35739461-35739511	SK-N-SH_RA	brain:	n/a
14	chr19:35739448-35739498	SK-N-SH	brain:	n/a
15	chr19:35739448-35739498	NB4	blood:	n/a
16	chr19:35739448-35739498	GM06990	blood:	n/a
17	chr19:35739461-35739511	Caco-2	colon:	n/a
18	chr19:35739448-35739498	PFSK-1	brain:	n/a
19	chr19:35739461-35739511	HCM	heart:	n/a
20	chr19:35739448-35739498	Caco-2	colon:	n/a
21	chr19:35739461-35739511	A549	lung:	n/a
22	chr19:35739461-35739511	GM12878	blood:	n/a
23	chr19:35739448-35739498	HCT-116	colon:	n/a
24	chr19:35739461-35739511	SK-N-SH	brain:	n/a
25	chr19:35739448-35739498	GM12878	blood:	n/a
26	chr19:35739448-35739498	NT2-D1	testis:	n/a
27	chr19:35739461-35739511	BJ	skin:	n/a
28	chr19:35739448-35739498	BE2_C	brain:	n/a
29	chr19:35739461-35739511	RPTEC	kidney:	n/a
30	chr19:35739461-35739511	HRCEpiC	kidney:	n/a
31	chr19:35739448-35739498	HRCEpiC	kidney:	n/a
32	chr19:35739461-35739511	HRE	kidney:	n/a
33	chr19:35739461-35739511	Jurkat	blood:	n/a
34	chr19:35739461-35739511	CMK	blood:	n/a
35	chr19:35739448-35739498	AoSMC	blood vessel:	n/a
36	chr19:35739448-35739498	NHBE	bronchial:	n/a
37	chr19:35739448-35739498	HL-60	blood:	n/a
38	chr19:35739448-35739498	IMR90	lung:	fetal
39	chr19:35739448-35739498	A549	lung:	n/a
40	chr19:35739461-35739511	HCF	heart:	n/a
41	chr19:35739448-35739498	HPAEpiC	pulmonary alveolar:	n/a
42	chr19:35739461-35739511	SK-N-MC	brain:	n/a
43	chr19:35739461-35739511	ECC-1	luminal epithelium:	n/a
44	chr19:35739448-35739498	H1-hESC	embryonic stem cell:	embryo
45	chr19:35739461-35739511	BE2_C	brain:	n/a
46	chr19:35739461-35739511	K562	blood:	n/a
47	chr19:35739461-35739511	NH-A	brain:	n/a
48	chr19:35739448-35739498	HIPEpiC	eye:	n/a
49	chr19:35739461-35739511	HIPEpiC	eye:	n/a
50	chr19:35739461-35739511	PFSK-1	brain:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35644198..35645864-chr19:35739143..35741806,2	MCF-7	breast:
2	chr19:35654052..35658593-chr19:35736953..35742683,9	K562	blood:
3	chr19:35738993..35741387-chr19:36004208..36006245,2	MCF-7	breast:
4	chr15:65588204..65590632-chr19:35739036..35741100,2	MCF-7	breast:
5	chr19:35650702..35653470-chr19:35739367..35741084,2	K562	blood:
6	chr19:35639021..35648956-chr19:35737438..35742195,14	K562	blood:
7	chr19:35738565..35740290-chr19:35840353..35842474,2	MCF-7	breast:
8	chr19:35718678..35720457-chr19:35738411..35740780,2	K562	blood:
9	chr19:35738675..35740393-chr19:35799543..35801412,2	MCF-7	breast:
10	chr19:35653699..35655552-chr19:35738412..35739992,2	K562	blood:
11	chr19:35604580..35611543-chr19:35737733..35741283,12	MCF-7	breast:
12	chr19:35625494..35628326-chr19:35738306..35742693,4	MCF-7	breast:
13	chr19:35723373..35727135-chr19:35736732..35741150,5	MCF-7	breast:
14	chr19:35738491..35740445-chr19:35800431..35803185,3	MCF-7	breast:
15	chr19:35720837..35725765-chr19:35738586..35741342,4	K562	blood:
16	chr19:35531384..35534577-chr19:35737191..35741282,3	MCF-7	breast:
17	chr19:35519110..35522906-chr19:35737918..35741487,5	MCF-7	breast:
18	chr19:35624985..35627104-chr19:35738782..35741299,2	K562	blood:
19	chr19:35526884..35529258-chr19:35738897..35741083,2	K562	blood:
20	chr19:35739029..35739853-chr2:101618613..101619152,2	Hela-S3	cervix:
21	chr19:35490465..35492383-chr19:35737631..35740321,3	MCF-7	breast:
22	chr19:35644753..35650464-chr19:35737058..35742117,12	K562	blood:
23	chr19:35738434..35740432-chr19:36265157..36268131,2	MCF-7	breast:
24	chr12:1800170..1800721-chr19:35739398..35740093,2	Hela-S3	cervix:
25	chr19:35603872..35607710-chr19:35737437..35742074,6	MCF-7	breast:
26	chr19:35625357..35628180-chr19:35737479..35741018,4	MCF-7	breast:
27	chr12:120729617..120731588-chr19:35739075..35741245,2	MCF-7	breast:
28	chr19:35651223..35652783-chr19:35738946..35741329,2	MCF-7	breast:
29	chr19:35738586..35740249-chr19:35841328..35842901,2	MCF-7	breast:
30	chr19:35631922..35638346-chr19:35737284..35742337,12	MCF-7	breast:
31	chr19:35738670..35740513-chr19:36484821..36487724,2	K562	blood:
32	chr19:35632170..35634290-chr19:35738915..35741421,3	K562	blood:
33	chr19:35630586..35637861-chr19:35737374..35742554,18	MCF-7	breast:

No data

Variant related genes	Relation type
LSR	TF binding region
LSR	CpG island
ENSG00000223947	Chromatin interaction
ENSG00000177558	Chromatin interaction
ENSG00000071082	Chromatin interaction
ENSG00000105711	Chromatin interaction
ENSG00000105707	Chromatin interaction
ENSG00000269303	Chromatin interaction
ENSG00000153902	Chromatin interaction
ENSG00000221946	Chromatin interaction
ENSG00000105695	Chromatin interaction
ENSG00000267874	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000089351	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000126266	Chromatin interaction
ENSG00000266964	Chromatin interaction
ENSG00000262497	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000006831	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000161249	Chromatin interaction
ENSG00000205138	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000089356	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16970163	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291532	0.90[EUR][1000 genomes]
rs34259399	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs482324	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs542977	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55850007	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56116175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56138958	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs569596	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73029957	0.97[ASN][1000 genomes]
rs73029989	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73030000	0.81[ASN][1000 genomes]
rs8100411	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking 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	107 gene(s)	inside rSNPs	diseases
4	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv978896	chr19:35724047-35748472	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35737600-35740600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr19:35738000-35740800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr19:35738000-35741000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:35738200-35740600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr19:35738200-35740800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr19:35738200-35740800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr19:35738200-35741000	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr19:35738200-35741400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:35738400-35739600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
10	chr19:35738400-35739800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:35738400-35740200	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr19:35738400-35740600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:35738400-35740800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:35738400-35740800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:35738400-35740800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr19:35738400-35740800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:35738400-35740800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:35738400-35740800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:35738400-35740800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr19:35738400-35740800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr19:35738400-35740800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:35738400-35740800	Active TSS	Esophagus	oesophagus
23	chr19:35738400-35741000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr19:35738400-35741000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr19:35738400-35741200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:35738400-35741200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr19:35738600-35739600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
28	chr19:35738600-35739600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:35738600-35739800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
30	chr19:35738600-35739800	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr19:35738600-35740000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:35738600-35740000	Transcr. at gene 5' and 3'	Right Atrium	heart
33	chr19:35738600-35740200	Flanking Bivalent TSS/Enh	A549	lung
34	chr19:35738600-35740400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr19:35738600-35740400	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr19:35738600-35740400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:35738600-35740400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr19:35738600-35740400	Active TSS	Left Ventricle	heart
39	chr19:35738600-35740600	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr19:35738600-35740600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr19:35738600-35740600	Bivalent/Poised TSS	Fetal Lung	lung
42	chr19:35738600-35740600	Active TSS	Placenta Amnion	Placenta Amnion
43	chr19:35738600-35740600	Active TSS	K562	blood
44	chr19:35738600-35740800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:35738600-35740800	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr19:35738600-35740800	Active TSS	Duodenum Mucosa	Duodenum
47	chr19:35738600-35741000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr19:35738600-35741000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr19:35738600-35741000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:35738600-35741200	Active TSS	Lung	lung

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