Variant report

Variant	rs8106253
Chromosome Location	chr19:56093296-56093297
allele	C/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	REST	chr19:56092103-56093468	PFSK-1	brain:	n/a	chr19:56092206-56092219 chr19:56092435-56092448
2	ZBTB33	chr19:56092993-56093649	A549	lung:	n/a	n/a
3	GABPA	chr19:56091985-56093713	A549	lung:	n/a	n/a
4	FOSL2	chr19:56092074-56093868	A549	lung:	n/a	n/a
5	ETS1	chr19:56093111-56093640	A549	lung:	n/a	n/a
6	REST	chr19:56092062-56093388	ECC-1	luminal epithelium:	n/a	chr19:56092206-56092219 chr19:56092435-56092448
7	JUND	chr19:56092682-56093634	A549	lung:	n/a	n/a
8	SP1	chr19:56091471-56093907	A549	lung:	n/a	chr19:56091862-56091876 chr19:56091908-56091917 chr19:56091907-56091919 chr19:56092416-56092428 chr19:56091904-56091918 chr19:56092245-56092259 chr19:56092416-56092428 chr19:56091879-56091893 chr19:56092257-56092271 chr19:56092220-56092234 chr19:56092379-56092390 chr19:56092251-56092265 chr19:56092417-56092426 chr19:56091994-56092008 chr19:56092419-56092433 chr19:56092145-56092154
9	NR3C1	chr19:56092770-56093869	A549	lung:	n/a	n/a
10	FOXA1	chr19:56092675-56093426	HepG2	liver:	n/a	n/a
11	BCL3	chr19:56091329-56093788	A549	lung:	n/a	chr19:56093661-56093670 chr19:56092350-56092359
12	REST	chr19:56092150-56093323	HCT-116	colon:	n/a	chr19:56092206-56092219 chr19:56092435-56092448
13	BCL3	chr19:56092005-56093793	A549	lung:	n/a	chr19:56093661-56093670 chr19:56092350-56092359
14	TEAD4	chr19:56092622-56093618	A549	lung:	n/a	n/a
15	NR3C1	chr19:56092986-56093616	A549	lung:	n/a	n/a
16	HDAC2	chr19:56093182-56093530	HepG2	liver:	n/a	n/a
17	REST	chr19:56091979-56093313	PANC-1	pancreas:	n/a	chr19:56092008-56092022 chr19:56092206-56092219 chr19:56092435-56092448
18	SP1	chr19:56093056-56093508	HepG2	liver:	n/a	n/a
19	REST	chr19:56092089-56093464	ECC-1	luminal epithelium:	n/a	chr19:56092206-56092219 chr19:56092435-56092448
20	REST	chr19:56092146-56093671	PANC-1	pancreas:	n/a	chr19:56092206-56092219 chr19:56092435-56092448
21	FOXA1	chr19:56092734-56093511	HepG2	liver:	n/a	n/a
22	NR3C1	chr19:56092996-56093765	A549	lung:	n/a	n/a
23	CREB1	chr19:56092814-56093415	A549	lung:	n/a	n/a
24	ATF3	chr19:56093089-56093768	A549	lung:	n/a	n/a
25	MAX	chr19:56091376-56093828	A549	lung:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
26	SIN3AK20	chr19:56092085-56093563	A549	lung:	n/a	n/a
27	FOXA1	chr19:56093022-56093799	A549	lung:	n/a	n/a
28	REST	chr19:56092047-56093331	PANC-1	pancreas:	n/a	chr19:56092206-56092219 chr19:56092435-56092448
29	FOXA1	chr19:56093034-56093630	HepG2	liver:	n/a	n/a
30	REST	chr19:56092054-56093507	HL-60	blood:	n/a	chr19:56092206-56092219 chr19:56092435-56092448
31	MAFK	chr19:56092927-56093596	HepG2	liver:	n/a	n/a
32	GATA3	chr19:56092749-56093703	A549	lung:	n/a	n/a
33	EP300	chr19:56091976-56093855	A549	lung:	n/a	chr19:56093656-56093670
34	ELF1	chr19:56092105-56093542	A549	lung:	n/a	chr19:56092349-56092358 chr19:56092350-56092359 chr19:56092348-56092359
35	MAX	chr19:56091864-56093737	A549	lung:	n/a	chr19:56092224-56092234 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
36	FOXA2	chr19:56092587-56093710	A549	lung:	n/a	n/a
37	ESR1	chr19:56093038-56093465	T-47D	breast:	n/a	n/a
38	REST	chr19:56092504-56093307	PANC-1	pancreas:	n/a	n/a
39	GATA3	chr19:56091995-56093918	A549	lung:	n/a	n/a
40	NR3C1	chr19:56093098-56093720	A549	lung:	n/a	n/a
41	RCOR1	chr19:56092689-56093417	HepG2	liver:	n/a	n/a
42	REST	chr19:56092098-56093381	HepG2	liver:	n/a	chr19:56092206-56092219 chr19:56092435-56092448
43	REST	chr19:56092133-56093396	H1-hESC	embryonic stem cell:	n/a	chr19:56092206-56092219 chr19:56092435-56092448
44	SP1	chr19:56091354-56093918	A549	lung:	n/a	chr19:56091862-56091876 chr19:56091908-56091917 chr19:56091907-56091919 chr19:56092416-56092428 chr19:56091904-56091918 chr19:56092245-56092259 chr19:56092416-56092428 chr19:56091879-56091893 chr19:56092257-56092271 chr19:56092220-56092234 chr19:56092379-56092390 chr19:56092251-56092265 chr19:56092417-56092426 chr19:56091994-56092008 chr19:56092419-56092433 chr19:56092145-56092154
45	REST	chr19:56091942-56093753	A549	lung:	n/a	chr19:56092008-56092022 chr19:56092206-56092219 chr19:56092435-56092448
46	CUX1	chr19:56092265-56093561	K562	blood:	n/a	n/a
47	FOXA2	chr19:56093083-56093565	HepG2	liver:	n/a	n/a
48	TCF12	chr19:56091437-56093943	A549	lung:	n/a	n/a
49	REST	chr19:56091915-56093776	A549	lung:	n/a	chr19:56092008-56092022 chr19:56092206-56092219 chr19:56092435-56092448
50	USF1	chr19:56093148-56093791	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56085801..56089181-chr19:56090146..56094195,5	MCF-7	breast:
2	chr19:56087628..56093963-chr19:56108517..56113906,9	MCF-7	breast:
3	chr19:56091409..56094452-chr19:56108819..56113428,6	K562	blood:
4	chr19:56089635..56093860-chr19:56114549..56117863,7	MCF-7	breast:
5	chr19:56092293..56094468-chr19:56145098..56146979,2	K562	blood:
6	chr19:56087478..56090277-chr19:56092054..56093869,2	MCF-7	breast:
7	chr19:56092829..56094744-chr19:56095214..56096826,2	MCF-7	breast:
8	chr19:56087311..56094258-chr19:56108819..56113699,11	K562	blood:
9	chr19:55973159..55975306-chr19:56090568..56094014,3	K562	blood:

Variant related genes	Relation type
ENSG00000267730	TF binding region
ZNF579	TF binding region
ENSG00000063241	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000267730	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000171443	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11881474	0.83[AMR][1000 genomes]
rs7249947	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8103107	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 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	chr19:56092400-56093400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:56092400-56093400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:56092400-56093400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:56092400-56093400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr19:56092400-56093400	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr19:56092400-56093400	Flanking Active TSS	K562	blood
7	chr19:56092400-56093600	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr19:56092400-56093600	Flanking Active TSS	Fetal Intestine Large	intestine
9	chr19:56092400-56093800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:56092400-56093800	Flanking Active TSS	Liver	Liver
11	chr19:56092400-56094000	Flanking Active TSS	A549	lung
12	chr19:56092600-56093400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:56092600-56093400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr19:56092600-56093400	Enhancers	Spleen	Spleen
15	chr19:56092600-56093600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:56092600-56093600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:56092600-56096200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:56092600-56097000	Weak transcription	Small Intestine	intestine
19	chr19:56092800-56093400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr19:56092800-56093400	Enhancers	Primary B cells from peripheral blood	blood
21	chr19:56092800-56093400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:56092800-56093400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:56092800-56093400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr19:56092800-56093400	Enhancers	Fetal Thymus	thymus
25	chr19:56092800-56093400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr19:56092800-56093600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:56092800-56093600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:56092800-56093600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:56092800-56093600	Enhancers	Aorta	Aorta
30	chr19:56092800-56093600	Enhancers	Fetal Intestine Small	intestine
31	chr19:56092800-56093600	Enhancers	HMEC	breast
32	chr19:56092800-56093800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr19:56092800-56093800	Flanking Active TSS	Fetal Kidney	kidney
34	chr19:56092800-56094000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr19:56092800-56094000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr19:56092800-56094000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:56092800-56094000	Enhancers	Placenta	Placenta
38	chr19:56092800-56096200	Weak transcription	Right Ventricle	heart
39	chr19:56092800-56096600	Weak transcription	NH-A	brain
40	chr19:56092800-56096800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr19:56092800-56096800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:56092800-56096800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:56092800-56096800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:56092800-56097000	Weak transcription	HSMMtube	muscle
45	chr19:56093000-56093400	Enhancers	Primary B cells from cord blood	blood
46	chr19:56093000-56093400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr19:56093000-56093400	Enhancers	Brain Germinal Matrix	brain
48	chr19:56093000-56093400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr19:56093000-56093400	Enhancers	Stomach Mucosa	stomach
50	chr19:56093000-56093400	Enhancers	NHDF-Ad	bronchial

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