Variant report

Variant	rs557993468
Chromosome Location	chr1:169075223-169075224
allele	C/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	YY1	chr1:169074717-169076226	HepG2	liver:	n/a	chr1:169075170-169075184 chr1:169076011-169076025 chr1:169075340-169075351 chr1:169075310-169075321 chr1:169075317-169075331 chr1:169075343-169075352 chr1:169074975-169074989 chr1:169075943-169075954 chr1:169075346-169075355 chr1:169076186-169076197 chr1:169075466-169075480
2	CTCF	chr1:169075120-169075270	GM12864	blood:	n/a	n/a
3	POLR2A	chr1:169074795-169076183	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:169074922-169076318	A549	lung:	n/a	n/a
5	MXI1	chr1:169074806-169075613	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr1:169074631-169075735	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr1:169074725-169075336	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF7	chr1:169074752-169075346	H1-hESC	embryonic stem cell:	n/a	n/a
9	HDAC2	chr1:169074683-169075234	HepG2	liver:	n/a	n/a
10	TCF3	chr1:169074910-169075320	GM12878	blood:	n/a	chr1:169075247-169075263 chr1:169075049-169075059
11	TCF12	chr1:169074584-169075322	ECC-1	luminal epithelium:	n/a	chr1:169075044-169075054 chr1:169075253-169075260
12	POLR2A	chr1:169074926-169076181	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:169074812-169075788	HepG2	liver:	n/a	n/a
14	NFIC	chr1:169074893-169075348	HepG2	liver:	n/a	chr1:169074900-169074916
15	POLR2A	chr1:169074816-169076166	HEK293	kidney:	n/a	n/a
16	MAX	chr1:169074604-169075874	HepG2	liver:	n/a	chr1:169075667-169075677 chr1:169075347-169075357
17	POLR2A	chr1:169074617-169076516	GM19193	blood:	n/a	n/a
18	MAX	chr1:169074556-169076383	H1-hESC	embryonic stem cell:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
19	TCF12	chr1:169074865-169075278	HepG2	liver:	n/a	chr1:169075044-169075054 chr1:169075253-169075260
20	SIN3AK20	chr1:169074606-169077295	MCF-7	breast:	n/a	n/a
21	TCF7L2	chr1:169074851-169075695	MCF-7	breast:	n/a	n/a
22	HA-E2F1	chr1:169074633-169076791	MCF-7	breast:	n/a	chr1:169075469-169075479 chr1:169075349-169075358 chr1:169076005-169076019 chr1:169075065-169075074 chr1:169075344-169075354 chr1:169075044-169075054 chr1:169075666-169075675
23	SIN3AK20	chr1:169075112-169076571	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr1:169074781-169075241	HCT-116	colon:	n/a	n/a
25	POLR2A	chr1:169074739-169077862	Hela-S3	cervix:	n/a	n/a
26	E2F6	chr1:169074599-169075449	H1-hESC	embryonic stem cell:	n/a	chr1:169075349-169075358 chr1:169075065-169075074 chr1:169075344-169075354 chr1:169075044-169075054
27	ZBTB7A	chr1:169074943-169075831	K562	blood:	n/a	chr1:169075276-169075283 chr1:169075791-169075802 chr1:169075732-169075743
28	POLR2A	chr1:169075211-169076229	SK-N-MC	brain:	n/a	n/a
29	RFX5	chr1:169074822-169077754	Hela-S3	cervix:	n/a	chr1:169077634-169077643
30	EP300	chr1:169074558-169076305	ECC-1	luminal epithelium:	n/a	chr1:169075030-169075043 chr1:169075296-169075312 chr1:169076181-169076197 chr1:169076180-169076196 chr1:169076033-169076049 chr1:169075343-169075352
31	CEBPB	chr1:169074743-169075725	HepG2	liver:	n/a	chr1:169074898-169074909
32	POLR2A	chr1:169075124-169076130	PFSK-1	brain:	n/a	n/a
33	MAX	chr1:169074718-169075847	HepG2	liver:	n/a	chr1:169075667-169075677 chr1:169075347-169075357
34	RXRA	chr1:169074841-169075342	HepG2	liver:	n/a	n/a
35	TCF12	chr1:169074983-169075271	H1-hESC	embryonic stem cell:	n/a	chr1:169075044-169075054 chr1:169075253-169075260
36	MAX	chr1:169074811-169076108	GM12878	blood:	n/a	chr1:169075667-169075677 chr1:169075347-169075357
37	MAX	chr1:169074502-169076839	A549	lung:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
38	GATA3	chr1:169074637-169076056	MCF-7	breast:	n/a	chr1:169074711-169074722
39	PML	chr1:169075147-169076279	GM12878	blood:	n/a	n/a
40	CREB1	chr1:169074714-169076584	HepG2	liver:	n/a	n/a
41	SP1	chr1:169074780-169075325	HepG2	liver:	n/a	chr1:169075071-169075080 chr1:169075066-169075075 chr1:169075069-169075081 chr1:169075061-169075075 chr1:169075197-169075211 chr1:169075064-169075076 chr1:169075065-169075074 chr1:169075069-169075081 chr1:169075064-169075076
42	POLR2A	chr1:169074709-169082197	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr1:169074891-169075227	HepG2	liver:	n/a	n/a
44	POLR2A	chr1:169074849-169076398	GM18526	blood:	n/a	n/a
45	POLR2A	chr1:169074786-169076389	A549	lung:	n/a	n/a
46	POLR2A	chr1:169074776-169075839	HepG2	liver:	n/a	n/a
47	MAX	chr1:169074828-169076148	K562	blood:	n/a	chr1:169075667-169075677 chr1:169075347-169075357
48	RAD21	chr1:169074796-169075265	SK-N-SH_RA	brain:	n/a	n/a
49	HNF4A	chr1:169074768-169075254	HepG2	liver:	n/a	n/a
50	RUNX3	chr1:169074788-169075251	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:169055830..169060702-chr1:169073415..169077056,5	MCF-7	breast:
2	chr1:169071736..169074539-chr1:169075134..169076733,2	K562	blood:
3	chr1:115300063..115300711-chr1:169075135..169075671,2	Hela-S3	cervix:
4	chr1:169073561..169077593-chr1:169336088..169341683,7	K562	blood:
5	chr1:169075130..169075749-chr17:39845054..39845686,2	NB4	blood:
6	chr1:169073666..169076222-chr8:146016630..146018644,2	MCF-7	breast:
7	chr1:169075211..169075952-chrX:110924329..110925163,2	Hela-S3	cervix:
8	chr1:169075091..169075831-chr1:174967957..174968644,2	Hela-S3	cervix:
9	chr1:169073988..169075864-chr6:26199270..26200811,2	MCF-7	breast:
10	chr1:169073990..169076920-chr1:169277266..169279793,2	K562	blood:
11	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:
12	chr1:169075020..169075902-chr19:58873810..58874406,2	HCT-116	colon:
13	chr1:169074990..169075671-chr5:40835294..40835996,2	Hela-S3	cervix:

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000161016	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000117475	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000203601	Chromatin interaction
ENSG00000174586	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000101901	Chromatin interaction
ENSG00000237707	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000268230	Chromatin interaction
ENSG00000143156	Chromatin interaction
ENSG00000269054	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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv3323390	chr1:169074353-169076901	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169074000-169078800	Active TSS	Rectal Smooth Muscle	rectum
2	chr1:169074400-169075400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr1:169074400-169075400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:169074400-169075400	Flanking Active TSS	Colonic Mucosa	Colon
5	chr1:169074400-169077400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:169074600-169075400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr1:169074600-169076400	Active TSS	Primary T cells from cord blood	blood
8	chr1:169074600-169077000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:169074600-169077600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr1:169074600-169077800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:169074600-169077800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:169074600-169078000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:169074800-169075400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:169074800-169075600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:169074800-169075600	Weak transcription	Fetal Lung	lung
16	chr1:169074800-169076000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:169074800-169076000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:169074800-169076400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:169074800-169076400	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr1:169074800-169076400	Active TSS	Brain Angular Gyrus	brain
21	chr1:169074800-169076400	Active TSS	HSMMtube	muscle
22	chr1:169074800-169076600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:169074800-169076600	Active TSS	A549	lung
24	chr1:169074800-169077000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:169074800-169077000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:169074800-169077000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:169074800-169077000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:169074800-169077000	Active TSS	HSMM	muscle
29	chr1:169074800-169077200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:169074800-169077200	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:169074800-169077200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:169074800-169077200	Active TSS	Duodenum Mucosa	Duodenum
33	chr1:169074800-169077400	Active TSS	Brain Germinal Matrix	brain
34	chr1:169074800-169077600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:169074800-169078000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:169074800-169078000	Active TSS	Ovary	ovary
37	chr1:169074800-169078000	Active TSS	Psoas Muscle	Psoas
38	chr1:169074800-169078200	Active TSS	Small Intestine	intestine
39	chr1:169074800-169078800	Active TSS	Brain Substantia Nigra	brain
40	chr1:169074800-169079000	Active TSS	Fetal Kidney	kidney
41	chr1:169074800-169079200	Active TSS	Brain Hippocampus Middle	brain
42	chr1:169074800-169079400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:169074800-169079600	Active TSS	Stomach Mucosa	stomach
44	chr1:169074800-169079800	Active TSS	Left Ventricle	heart
45	chr1:169074800-169080400	Active TSS	Right Ventricle	heart
46	chr1:169074800-169080800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:169075000-169075600	Active TSS	Right Atrium	heart
48	chr1:169075000-169076000	Weak transcription	Fetal Brain Male	brain
49	chr1:169075000-169076000	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr1:169075000-169076000	Active TSS	Spleen	Spleen

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