Variant report

Variant	rs35323359
Chromosome Location	chr19:38810391-38810392
allele	A/G
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	POLR2A	chr19:38810163-38810514	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr19:38809968-38810782	MCF-7	breast:	n/a	chr19:38810413-38810422 chr19:38810531-38810543 chr19:38810414-38810426 chr19:38810457-38810468
3	POLR2A	chr19:38810013-38810782	PANC-1	pancreas:	n/a	n/a
4	CREB1	chr19:38809978-38811040	H1-hESC	embryonic stem cell:	n/a	chr19:38810541-38810554
5	MAX	chr19:38809841-38811231	A549	lung:	n/a	chr19:38810534-38810544
6	POLR2A	chr19:38810338-38810491	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr19:38810354-38810590	HCT-116	colon:	n/a	chr19:38810437-38810446
8	POLR2A	chr19:38810282-38810839	ProgFib	skin:	n/a	n/a
9	POLR2A	chr19:38810330-38810819	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr19:38810037-38810989	MCF-7	breast:	n/a	n/a
11	MAX	chr19:38810332-38810947	ECC-1	luminal epithelium:	n/a	chr19:38810534-38810544
12	JUND	chr19:38810081-38810618	H1-hESC	embryonic stem cell:	n/a	chr19:38810438-38810447
13	ZBTB7A	chr19:38810131-38811134	ECC-1	luminal epithelium:	n/a	n/a
14	SIN3AK20	chr19:38810225-38810738	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZBTB7A	chr19:38810247-38811063	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr19:38810223-38810906	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr19:38810276-38810788	GM12878	blood:	n/a	n/a
18	MYC	chr19:38810365-38810411	MCF-7	breast:	n/a	n/a
19	ELF1	chr19:38809972-38810802	GM12878	blood:	n/a	chr19:38810413-38810422 chr19:38810531-38810543 chr19:38810414-38810426 chr19:38810457-38810468
20	MYC	chr19:38810346-38810952	MCF-7	breast:	n/a	chr19:38810534-38810544
21	ZNF263	chr19:38810029-38810864	HEK293-T-REx	kidney:	n/a	chr19:38810277-38810298
22	TEAD4	chr19:38810218-38810615	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:38810387-38810704	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr19:38810366-38810892	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr19:38810305-38810778	HL-60	blood:	n/a	n/a
26	MAX	chr19:38810342-38811126	A549	lung:	n/a	chr19:38810534-38810544
27	TCF12	chr19:38810160-38810459	H1-hESC	embryonic stem cell:	n/a	chr19:38810384-38810391
28	POLR2A	chr19:38810259-38810966	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr19:38810169-38810799	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr19:38810132-38811134	MCF-7	breast:	n/a	chr19:38810534-38810544
31	POLR2A	chr19:38809974-38810937	MCF-7	breast:	n/a	n/a
32	RAD21	chr19:38810297-38811112	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP4	chr19:38810177-38810692	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr19:38810378-38810788	GM18505	blood:	n/a	n/a
35	POLR2A	chr19:38810295-38810803	GM15510	blood:	n/a	n/a
36	SIN3A	chr19:38810046-38811068	H1-hESC	embryonic stem cell:	n/a	chr19:38810191-38810202
37	POLR2A	chr19:38810036-38810951	H1-hESC	embryonic stem cell:	n/a	n/a
38	HA-E2F1	chr19:38810087-38810980	MCF-7	breast:	n/a	chr19:38810533-38810542 chr19:38810416-38810425
39	TAF1	chr19:38810085-38810706	H1-hESC	embryonic stem cell:	n/a	n/a
40	GABPA	chr19:38810247-38810777	MCF-7	breast:	n/a	n/a
41	TAF1	chr19:38810153-38810422	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF143	chr19:38810074-38811014	H1-hESC	embryonic stem cell:	n/a	chr19:38810290-38810309
43	POLR2A	chr19:38810161-38810999	HCT-116	colon:	n/a	n/a
44	POLR2A	chr19:38810096-38810770	HCT-116	colon:	n/a	n/a
45	BCL3	chr19:38809796-38811002	A549	lung:	n/a	n/a
46	MAX	chr19:38810161-38811142	H1-hESC	embryonic stem cell:	n/a	chr19:38810534-38810544
47	POLR2A	chr19:38810225-38810865	GM18951	blood:	n/a	n/a
48	TCF12	chr19:38810223-38810517	H1-hESC	embryonic stem cell:	n/a	chr19:38810384-38810391
49	SIN3AK20	chr19:38810004-38811051	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr19:38810164-38810423	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38808796..38810665-chr19:38878393..38880605,3	MCF-7	breast:
2	chr19:38810024..38812525-chr19:38892478..38895075,3	MCF-7	breast:
3	chr19:38713590..38716581-chr19:38810078..38812613,2	MCF-7	breast:
4	chr19:38810007..38812286-chr19:38825422..38828123,4	MCF-7	breast:
5	chr19:38753833..38757251-chr19:38808796..38812283,9	MCF-7	breast:

Variant related genes	Relation type
KCNK6	TF binding region
YIF1B	TF binding region
ENSG00000130244	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000179168	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11878707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12461700	0.84[AFR][1000 genomes]
rs34614180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35077481	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35710536	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3859550	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71354996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7253827	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv960928	chr19:38790012-38822380	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38808400-38810400	Enhancers	K562	blood
2	chr19:38809200-38810400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:38809200-38811400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:38809200-38813200	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr19:38809400-38810400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:38809400-38810400	Flanking Active TSS	NHEK	skin
7	chr19:38809400-38811400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:38809600-38810400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:38809600-38810400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr19:38809600-38810400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr19:38809600-38811200	Flanking Active TSS	Colonic Mucosa	Colon
12	chr19:38809600-38811200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
13	chr19:38809600-38811400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr19:38809800-38810400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr19:38809800-38810400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:38809800-38810400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:38809800-38810400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr19:38809800-38810400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:38809800-38810400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr19:38809800-38810400	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr19:38809800-38810400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:38809800-38810400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr19:38809800-38810400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr19:38809800-38810400	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr19:38809800-38810400	Flanking Active TSS	Stomach Mucosa	stomach
26	chr19:38809800-38810400	Flanking Active TSS	NHLF	lung
27	chr19:38809800-38810400	Flanking Active TSS	Osteobl	bone
28	chr19:38809800-38810600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr19:38809800-38810600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:38809800-38810600	Flanking Active TSS	Pancreas	Pancrea
31	chr19:38809800-38810800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:38809800-38811200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr19:38809800-38811200	Flanking Active TSS	HUVEC	blood vessel
34	chr19:38809800-38811400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr19:38809800-38811400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr19:38809800-38811400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr19:38809800-38811400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr19:38809800-38811600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:38809800-38811600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr19:38809800-38811800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr19:38809800-38811800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr19:38809800-38812000	Active TSS	Aorta	Aorta
43	chr19:38809800-38812600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr19:38809800-38813200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:38810000-38810400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:38810000-38810400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:38810000-38810400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:38810000-38810400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr19:38810000-38810400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr19:38810000-38810400	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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