Variant report

Variant	rs17173026
Chromosome Location	chr19:35739079-35739080
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	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	SP1	chr19:35738363-35740122	H1-hESC	embryonic stem cell:	n/a	chr19:35739574-35739588 chr19:35739591-35739600 chr19:35739125-35739139 chr19:35738973-35738980
7	GABPA	chr19:35738633-35739091	H1-hESC	embryonic stem cell:	n/a	chr19:35738936-35738943
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	EBF1	chr19:35738570-35739109	GM12878	blood:	n/a	n/a
16	JUND	chr19:35738299-35740409	HCT-116	colon:	n/a	chr19:35740274-35740288
17	IRF1	chr19:35738411-35740150	K562	blood:	n/a	chr19:35738743-35738756 chr19:35738743-35738757 chr19:35738746-35738756
18	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
19	UBTF	chr19:35738438-35740490	K562	blood:	n/a	n/a
20	MAX	chr19:35738343-35740284	K562	blood:	n/a	chr19:35739208-35739218 chr19:35740104-35740114
21	JUND	chr19:35738728-35740052	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr19:35738363-35739463	H1-hESC	embryonic stem cell:	n/a	chr19:35738834-35738847 chr19:35738831-35738850 chr19:35738775-35738784 chr19:35738833-35738845 chr19:35738835-35738845
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	TEAD4	chr19:35738686-35739175	H1-hESC	embryonic stem cell:	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	POLR2A	chr19:35738305-35740223	HCT-116	colon:	n/a	n/a
31	TAF7	chr19:35738312-35740211	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr19:35739056-35740221	HepG2	liver:	n/a	n/a
33	WRNIP1	chr19:35738983-35741180	GM12878	blood:	n/a	n/a
34	CHD2	chr19:35738437-35740609	Hela-S3	cervix:	n/a	chr19:35740222-35740232
35	POLR2A	chr19:35739021-35740223	GM12892	blood:	n/a	n/a
36	YY1	chr19:35738425-35739148	HCT-116	colon:	n/a	n/a
37	SMC3	chr19:35738446-35740493	Hela-S3	cervix:	n/a	chr19:35738835-35738849 chr19:35738835-35738845
38	MYC	chr19:35738277-35740509	K562	blood:	n/a	chr19:35739208-35739218 chr19:35740104-35740114
39	BHLHE40	chr19:35738376-35740338	GM12878	blood:	n/a	n/a
40	TAF1	chr19:35738497-35740405	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr19:35738488-35740854	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:35738403-35740390	K562	blood:	n/a	n/a
43	GABPA	chr19:35738360-35740176	MCF-7	breast:	n/a	chr19:35738936-35738943
44	EP300	chr19:35738343-35740111	H1-hESC	embryonic stem cell:	n/a	chr19:35739338-35739354 chr19:35739566-35739573
45	RAD21	chr19:35738395-35739086	MCF-7	breast:	n/a	chr19:35738834-35738847 chr19:35738831-35738850 chr19:35738775-35738784 chr19:35738833-35738845 chr19:35738835-35738845
46	EP300	chr19:35738796-35739184	HepG2	liver:	n/a	n/a
47	NFIC	chr19:35739057-35740151	HepG2	liver:	n/a	n/a
48	RELA	chr19:35738519-35740485	GM18951	blood:	n/a	chr19:35738925-35738934 chr19:35740195-35740204 chr19:35738925-35738934 chr19:35740195-35740204
49	TAL1	chr19:35738511-35740239	K562	blood:	n/a	n/a
50	CHD2	chr19:35738512-35740519	K562	blood:	n/a	chr19:35740222-35740232

No.	Distal block	Cell Line	Cell type
1	chr19:35654052..35658593-chr19:35736953..35742683,9	K562	blood:
2	chr19:35738993..35741387-chr19:36004208..36006245,2	MCF-7	breast:
3	chr15:65588204..65590632-chr19:35739036..35741100,2	MCF-7	breast:
4	chr19:35639021..35648956-chr19:35737438..35742195,14	K562	blood:
5	chr19:35738565..35740290-chr19:35840353..35842474,2	MCF-7	breast:
6	chr19:35718678..35720457-chr19:35738411..35740780,2	K562	blood:
7	chr19:35738675..35740393-chr19:35799543..35801412,2	MCF-7	breast:
8	chr19:35653699..35655552-chr19:35738412..35739992,2	K562	blood:
9	chr19:35604580..35611543-chr19:35737733..35741283,12	MCF-7	breast:
10	chr19:35738397..35739313-chr19:35760217..35761209,4	K562	blood:
11	chr19:35625494..35628326-chr19:35738306..35742693,4	MCF-7	breast:
12	chr19:35723373..35727135-chr19:35736732..35741150,5	MCF-7	breast:
13	chr19:35738491..35740445-chr19:35800431..35803185,3	MCF-7	breast:
14	chr19:35720837..35725765-chr19:35738586..35741342,4	K562	blood:
15	chr19:35531384..35534577-chr19:35737191..35741282,3	MCF-7	breast:
16	chr19:35519110..35522906-chr19:35737918..35741487,5	MCF-7	breast:
17	chr19:35624985..35627104-chr19:35738782..35741299,2	K562	blood:
18	chr19:35526884..35529258-chr19:35738897..35741083,2	K562	blood:
19	chr19:35739029..35739853-chr2:101618613..101619152,2	Hela-S3	cervix:
20	chr19:35490465..35492383-chr19:35737631..35740321,3	MCF-7	breast:
21	chr19:35644753..35650464-chr19:35737058..35742117,12	K562	blood:
22	chr19:35738434..35740432-chr19:36265157..36268131,2	MCF-7	breast:
23	chr19:35603872..35607710-chr19:35737437..35742074,6	MCF-7	breast:
24	chr19:35625357..35628180-chr19:35737479..35741018,4	MCF-7	breast:
25	chr12:120729617..120731588-chr19:35739075..35741245,2	MCF-7	breast:
26	chr19:35651223..35652783-chr19:35738946..35741329,2	MCF-7	breast:
27	chr19:35738586..35740249-chr19:35841328..35842901,2	MCF-7	breast:
28	chr19:35631922..35638346-chr19:35737284..35742337,12	MCF-7	breast:
29	chr19:35738670..35740513-chr19:36484821..36487724,2	K562	blood:
30	chr19:35632170..35634290-chr19:35738915..35741421,3	K562	blood:
31	chr19:35630586..35637861-chr19:35737374..35742554,18	MCF-7	breast:

Variant related genes	Relation type
LSR	TF binding region
ENSG00000262497	Chromatin interaction
ENSG00000269303	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000105711	Chromatin interaction
ENSG00000089356	Chromatin interaction
ENSG00000161249	Chromatin interaction
ENSG00000105695	Chromatin interaction
ENSG00000071082	Chromatin interaction
ENSG00000089351	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000205138	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000177558	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000153902	Chromatin interaction
ENSG00000223947	Chromatin interaction
ENSG00000267874	Chromatin interaction
ENSG00000266964	Chromatin interaction
ENSG00000126266	Chromatin interaction
ENSG00000105707	Chromatin interaction
ENSG00000221946	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10416533	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12459658	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1882695	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2005927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280746	0.92[EUR][1000 genomes]
rs4805116	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4806114	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4806115	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4806121	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806125	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55745204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55863037	0.92[EUR][1000 genomes]
rs55877896	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56002756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66868858	0.92[EUR][1000 genomes]
rs73029949	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045840	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73045852	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73045860	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7508022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:111 , 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	chr19:35738000-35739400	Weak transcription	Fetal Heart	heart
3	chr19:35738000-35740800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr19:35738000-35741000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:35738200-35740600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr19:35738200-35740800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr19:35738200-35740800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:35738200-35741000	Bivalent/Poised TSS	Fetal Kidney	kidney
9	chr19:35738200-35741400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:35738400-35739200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
11	chr19:35738400-35739200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
12	chr19:35738400-35739400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr19:35738400-35739400	Active TSS	Rectal Smooth Muscle	rectum
14	chr19:35738400-35739600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
15	chr19:35738400-35739800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:35738400-35740200	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr19:35738400-35740600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:35738400-35740800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:35738400-35740800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:35738400-35740800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr19:35738400-35740800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:35738400-35740800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:35738400-35740800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:35738400-35740800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:35738400-35740800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr19:35738400-35740800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:35738400-35740800	Active TSS	Esophagus	oesophagus
28	chr19:35738400-35741000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr19:35738400-35741000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr19:35738400-35741200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:35738400-35741200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr19:35738600-35739400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:35738600-35739400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
34	chr19:35738600-35739400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr19:35738600-35739600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
36	chr19:35738600-35739600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:35738600-35739800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
38	chr19:35738600-35739800	Flanking Bivalent TSS/Enh	Placenta	Placenta
39	chr19:35738600-35740000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:35738600-35740000	Transcr. at gene 5' and 3'	Right Atrium	heart
41	chr19:35738600-35740200	Flanking Bivalent TSS/Enh	A549	lung
42	chr19:35738600-35740400	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr19:35738600-35740400	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr19:35738600-35740400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:35738600-35740400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr19:35738600-35740400	Active TSS	Left Ventricle	heart
47	chr19:35738600-35740600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr19:35738600-35740600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
49	chr19:35738600-35740600	Bivalent/Poised TSS	Fetal Lung	lung
50	chr19:35738600-35740600	Active TSS	Placenta Amnion	Placenta Amnion

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