Variant report

Variant	rs113322523
Chromosome Location	chr1:75197534-75197535
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	TCF12	chr1:75196852-75197584	SK-N-SH	brain:	n/a	n/a
2	SP1	chr1:75197041-75197636	A549	lung:	n/a	n/a
3	CUX1	chr1:75196910-75198287	GM12878	blood:	n/a	n/a
4	CHD2	chr1:75197213-75198218	GM12878	blood:	n/a	n/a
5	TCF12	chr1:75196978-75197686	A549	lung:	n/a	n/a
6	HEY1	chr1:75197075-75198245	HepG2	liver:	n/a	n/a
7	RELA	chr1:75196976-75199695	GM19193	blood:	n/a	n/a
8	ARID3A	chr1:75196807-75197673	HepG2	liver:	n/a	n/a
9	RELA	chr1:75197065-75199714	GM15510	blood:	n/a	n/a
10	TCF12	chr1:75197534-75198290	GM12878	blood:	n/a	n/a
11	NR3C1	chr1:75197099-75197549	A549	lung:	n/a	chr1:75197333-75197347 chr1:75197101-75197127
12	NFIC	chr1:75197433-75198264	GM12878	blood:	n/a	n/a
13	GATA3	chr1:75196807-75197658	A549	lung:	n/a	chr1:75197228-75197244
14	ZBTB7A	chr1:75197506-75197684	HepG2	liver:	n/a	n/a
15	FOXM1	chr1:75197367-75198339	GM12878	blood:	n/a	n/a
16	JUN	chr1:75196967-75197597	HepG2	liver:	n/a	chr1:75197135-75197144 chr1:75197136-75197144 chr1:75197136-75197143
17	POLR2A	chr1:75197076-75197727	HepG2	liver:	n/a	n/a
18	TBP	chr1:75196893-75197557	GM12878	blood:	n/a	n/a
19	ATF2	chr1:75196957-75197766	GM12878	blood:	n/a	n/a
20	RELA	chr1:75197077-75199725	GM12891	blood:	n/a	n/a
21	HEY1	chr1:75196948-75198153	HepG2	liver:	n/a	n/a
22	RELA	chr1:75196990-75199882	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:75197126-75197598	K562	blood:	n/a	n/a
24	MTA3	chr1:75197225-75199820	GM12878	blood:	n/a	n/a
25	RELA	chr1:75197016-75199699	GM19099	blood:	n/a	n/a
26	MAFK	chr1:75197124-75197572	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:75196850-75200950	GM12878	blood:	n/a	n/a
28	RCOR1	chr1:75197022-75197552	K562	blood:	n/a	n/a
29	POLR2A	chr1:75196955-75199695	HepG2	liver:	n/a	n/a
30	GATA3	chr1:75196910-75197572	SK-N-SH	brain:	n/a	chr1:75197228-75197244
31	TEAD4	chr1:75196907-75197767	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:75196987-75201662	GM12891	blood:	n/a	n/a
33	POLR2A	chr1:75197017-75197718	HepG2	liver:	n/a	n/a
34	RELA	chr1:75197115-75200040	GM18505	blood:	n/a	n/a
35	NFIC	chr1:75196996-75197747	HepG2	liver:	n/a	n/a
36	CEBPB	chr1:75197224-75197716	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:75197128-75198271	GM12891	blood:	n/a	n/a
38	NFIC	chr1:75197115-75197665	HepG2	liver:	n/a	n/a
39	GATA3	chr1:75196780-75197754	SK-N-SH	brain:	n/a	chr1:75197228-75197244
40	PAX5	chr1:75197505-75199249	GM12878	blood:	n/a	n/a
41	MXI1	chr1:75197095-75197656	HepG2	liver:	n/a	n/a
42	MYBL2	chr1:75197049-75197691	HepG2	liver:	n/a	n/a
43	SP1	chr1:75197516-75198246	GM12878	blood:	n/a	n/a
44	ZNF384	chr1:75196761-75197618	GM12878	blood:	n/a	n/a
45	FOXA1	chr1:75197252-75197763	HepG2	liver:	n/a	n/a
46	EP300	chr1:75197323-75197677	HepG2	liver:	n/a	n/a
47	POLR2A	chr1:75197004-75197790	HepG2	liver:	n/a	n/a
48	NR3C1	chr1:75197143-75197600	A549	lung:	n/a	chr1:75197333-75197347
49	WRNIP1	chr1:75197197-75197613	GM12878	blood:	n/a	n/a
50	FOSL2	chr1:75196855-75197684	A549	lung:	n/a	chr1:75197135-75197144 chr1:75197136-75197144 chr1:75197136-75197143

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75195743..75197778-chr1:75197921..75199580,2	MCF-7	breast:
2	chr1:75197237..75200127-chr1:76254006..76255529,2	K562	blood:

Variant related genes	Relation type
TYW3	TF binding region
ENSG00000116791	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000162623	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1838134	chr1:75197533-75198602	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv546579	chr1:75197533-75200486	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75174800-75198000	Weak transcription	Thymus	Thymus
2	chr1:75183000-75198400	Weak transcription	Fetal Brain Male	brain
3	chr1:75188200-75198000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:75188400-75198000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:75192200-75197600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:75192200-75197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:75192200-75198000	Weak transcription	Gastric	stomach
8	chr1:75192400-75198000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:75192400-75198000	Weak transcription	Fetal Thymus	thymus
10	chr1:75192600-75197600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:75192800-75197600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:75194600-75198200	Weak transcription	Small Intestine	intestine
13	chr1:75194800-75198000	Weak transcription	Brain Substantia Nigra	brain
14	chr1:75194800-75198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:75195000-75198000	Weak transcription	Esophagus	oesophagus
16	chr1:75195400-75197800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:75195600-75198000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:75195600-75200400	Active TSS	A549	lung
19	chr1:75195800-75198000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:75195800-75198400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:75196000-75197800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:75196200-75198000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:75196400-75198000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:75196400-75198200	Weak transcription	HSMMtube	muscle
25	chr1:75196400-75198400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:75196400-75199600	Active TSS	Fetal Kidney	kidney
27	chr1:75196600-75198400	Active TSS	HepG2	liver
28	chr1:75196800-75197600	Enhancers	HSMM	muscle
29	chr1:75196800-75197800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:75196800-75197800	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr1:75196800-75198000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:75196800-75198600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:75196800-75200000	Active TSS	Fetal Intestine Large	intestine
34	chr1:75197000-75197600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:75197000-75197800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:75197000-75197800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:75197000-75197800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:75197000-75197800	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr1:75197000-75198000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr1:75197000-75198200	Enhancers	Fetal Lung	lung
41	chr1:75197000-75198200	Flanking Active TSS	HUVEC	blood vessel
42	chr1:75197000-75199000	Active TSS	Stomach Smooth Muscle	stomach
43	chr1:75197000-75199600	Active TSS	Fetal Intestine Small	intestine
44	chr1:75197000-75199600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr1:75197200-75197600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:75197200-75197600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:75197200-75197600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:75197200-75197600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:75197200-75197600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:75197200-75197600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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