Variant report

Variant	rs549344069
Chromosome Location	chr1:169075402-169075403
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	chr1:169075287-169076169	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr1:169075400-169075550	NHEK	skin:	n/a	n/a
3	CTCF	chr1:169075400-169075550	HVMF	connective:	n/a	n/a
4	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
5	TCF3	chr1:169075366-169075737	GM12878	blood:	n/a	n/a
6	NFYB	chr1:169075229-169075702	GM12878	blood:	n/a	chr1:169075476-169075491 chr1:169075476-169075491 chr1:169075478-169075493 chr1:169075479-169075489
7	POLR2A	chr1:169074795-169076183	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:169074922-169076318	A549	lung:	n/a	n/a
9	MXI1	chr1:169074806-169075613	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr1:169074631-169075735	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYBL2	chr1:169075360-169075842	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:169075297-169076291	Gliobla	brain:	n/a	n/a
13	RAD21	chr1:169075362-169075744	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:169075252-169075828	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr1:169074926-169076181	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:169074812-169075788	HepG2	liver:	n/a	n/a
17	CTCF	chr1:169075341-169075674	K562	blood:	n/a	n/a
18	GTF2F1	chr1:169075364-169076053	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:169074816-169076166	HEK293	kidney:	n/a	n/a
20	MAX	chr1:169074604-169075874	HepG2	liver:	n/a	chr1:169075667-169075677 chr1:169075347-169075357
21	E2F6	chr1:169075337-169075842	K562	blood:	n/a	chr1:169075469-169075479 chr1:169075615-169075626 chr1:169075349-169075358 chr1:169075344-169075354 chr1:169075666-169075675
22	SIN3AK20	chr1:169075352-169076155	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr1:169074617-169076516	GM19193	blood:	n/a	n/a
24	HEY1	chr1:169075375-169075765	K562	blood:	n/a	chr1:169075667-169075682
25	MAX	chr1:169074556-169076383	H1-hESC	embryonic stem cell:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
26	CTCF	chr1:169075400-169075550	GM12870	blood:	n/a	n/a
27	CREB1	chr1:169075396-169075747	A549	lung:	n/a	n/a
28	RAD21	chr1:169075307-169075819	SK-N-SH_RA	brain:	n/a	n/a
29	SIN3AK20	chr1:169074606-169077295	MCF-7	breast:	n/a	n/a
30	TCF7L2	chr1:169074851-169075695	MCF-7	breast:	n/a	n/a
31	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
32	SIN3AK20	chr1:169075112-169076571	PANC-1	pancreas:	n/a	n/a
33	RAD21	chr1:169075282-169075820	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:169074739-169077862	Hela-S3	cervix:	n/a	n/a
35	E2F6	chr1:169074599-169075449	H1-hESC	embryonic stem cell:	n/a	chr1:169075349-169075358 chr1:169075065-169075074 chr1:169075344-169075354 chr1:169075044-169075054
36	UBTF	chr1:169075393-169076676	K562	blood:	n/a	n/a
37	ZBTB7A	chr1:169074943-169075831	K562	blood:	n/a	chr1:169075276-169075283 chr1:169075791-169075802 chr1:169075732-169075743
38	POLR2A	chr1:169075211-169076229	SK-N-MC	brain:	n/a	n/a
39	RFX5	chr1:169074822-169077754	Hela-S3	cervix:	n/a	chr1:169077634-169077643
40	CTCF	chr1:169075360-169075510	AG04450	lung:	n/a	n/a
41	PML	chr1:169075329-169075901	MCF-7	breast:	n/a	n/a
42	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
43	CEBPB	chr1:169074743-169075725	HepG2	liver:	n/a	chr1:169074898-169074909
44	POLR2A	chr1:169075124-169076130	PFSK-1	brain:	n/a	n/a
45	MAX	chr1:169074718-169075847	HepG2	liver:	n/a	chr1:169075667-169075677 chr1:169075347-169075357
46	MAX	chr1:169074811-169076108	GM12878	blood:	n/a	chr1:169075667-169075677 chr1:169075347-169075357
47	POLR2A	chr1:169075301-169075854	GM12878	blood:	n/a	n/a
48	MAX	chr1:169074502-169076839	A549	lung:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
49	GATA3	chr1:169074637-169076056	MCF-7	breast:	n/a	chr1:169074711-169074722
50	PML	chr1:169075147-169076279	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:169075400-169075450	RPTEC	kidney:	n/a
2	chr1:169075400-169075450	GM12892	blood:	n/a
3	chr1:169075400-169075450	ECC-1	luminal epithelium:	n/a
4	chr1:169075400-169075450	Hela-S3	cervix:	n/a
5	chr1:169075400-169075450	HMEC	breast:	n/a
6	chr1:169075400-169075450	HCT-116	colon:	n/a
7	chr1:169075400-169075450	H1-hESC	embryonic stem cell:	embryo
8	chr1:169075400-169075450	PANC-1	pancreas:	n/a
9	chr1:169075400-169075450	HRE	kidney:	n/a
10	chr1:169075400-169075450	Jurkat	blood:	n/a
11	chr1:169075400-169075450	PrEC	prostate:	n/a
12	chr1:169075400-169075450	BJ	skin:	n/a
13	chr1:169075400-169075450	T-47D	breast:	n/a
14	chr1:169075400-169075450	K562	blood:	n/a
15	chr1:169075400-169075450	HRCEpiC	kidney:	n/a
16	chr1:169075400-169075450	AoSMC	blood vessel:	n/a
17	chr1:169075400-169075450	ProgFib	skin:	n/a
18	chr1:169075400-169075450	Caco-2	colon:	n/a
19	chr1:169075400-169075450	SAEC	small airway:	n/a
20	chr1:169075400-169075450	HCPEpiC	choroid plexus:	n/a
21	chr1:169075400-169075450	NB4	blood:	n/a
22	chr1:169075400-169075450	NHBE	bronchial:	n/a
23	chr1:169075400-169075450	SK-N-SH_RA	brain:	n/a
24	chr1:169075400-169075450	MCF10A-Er-Src	breast:	n/a
25	chr1:169075400-169075450	HAEpiC	amniotic membrane:	n/a
26	chr1:169075400-169075450	BE2_C	brain:	n/a
27	chr1:169075400-169075450	HEK293	kidney:	embryo
28	chr1:169075400-169075450	U87	brain:	n/a
29	chr1:169075400-169075450	HepG2	liver:	n/a
30	chr1:169075400-169075450	IMR90	lung:	fetal
31	chr1:169075400-169075450	AG09319	gingival:	n/a
32	chr1:169075400-169075450	GM06990	blood:	n/a
33	chr1:169075400-169075450	GM19239	blood:	n/a
34	chr1:169075400-169075450	SK-N-SH	brain:	n/a
35	chr1:169075400-169075450	A549	lung:	n/a
36	chr1:169075400-169075450	HIPEpiC	eye:	n/a
37	chr1:169075400-169075450	HCM	heart:	n/a
38	chr1:169075400-169075450	Hepatocyte	liver:	n/a
39	chr1:169075400-169075450	NH-A	brain:	n/a
40	chr1:169075400-169075450	HL-60	blood:	n/a
41	chr1:169075400-169075450	AG04449	skin:	fetal
42	chr1:169075400-169075450	NT2-D1	testis:	n/a
43	chr1:169075400-169075450	HCF	heart:	n/a
44	chr1:169075400-169075450	CMK	blood:	n/a
45	chr1:169075400-169075450	MCF-7	breast:	n/a
46	chr1:169075400-169075450	ovcar-3	ovarian:	n/a
47	chr1:169075400-169075450	HUVEC	blood vessel:	n/a
48	chr1:169075400-169075450	LNCaP	prostate:	n/a
49	chr1:169075400-169075450	AG10803	skin:	n/a
50	chr1:169075400-169075450	NHDF-neo	bronchial:	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	chr1:169075238..169075823-chr12:49525054..49525857,2	NB4	blood:
5	chr1:169073561..169077593-chr1:169336088..169341683,7	K562	blood:
6	chr1:169075323..169076076-chr11:108093263..108093829,2	NB4	blood:
7	chr1:169075130..169075749-chr17:39845054..39845686,2	NB4	blood:
8	chr1:169075329..169076274-chr13:36919346..36920283,2	NB4	blood:
9	chr1:169073666..169076222-chr8:146016630..146018644,2	MCF-7	breast:
10	chr1:169075211..169075952-chrX:110924329..110925163,2	Hela-S3	cervix:
11	chr1:169075091..169075831-chr1:174967957..174968644,2	Hela-S3	cervix:
12	chr1:169073988..169075864-chr6:26199270..26200811,2	MCF-7	breast:
13	chr1:169073990..169076920-chr1:169277266..169279793,2	K562	blood:
14	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:
15	chr1:169075020..169075902-chr19:58873810..58874406,2	HCT-116	colon:
16	chr1:169074990..169075671-chr5:40835294..40835996,2	Hela-S3	cervix:

Variant related genes	Relation type
ATP1B1	TF binding region
ATP1B1	CpG island
ENSG00000237707	Chromatin interaction
ENSG00000174586	Chromatin interaction
ENSG00000268230	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000101901	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000143156	Chromatin interaction
ENSG00000149308	Chromatin interaction
ENSG00000269054	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000117475	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000161016	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000133104	Chromatin interaction
ENSG00000203601	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	chr1:169074400-169077400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:169074600-169076400	Active TSS	Primary T cells from cord blood	blood
4	chr1:169074600-169077000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:169074600-169077600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:169074600-169077800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:169074600-169077800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:169074600-169078000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:169074800-169075600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:169074800-169075600	Weak transcription	Fetal Lung	lung
11	chr1:169074800-169076000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:169074800-169076000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:169074800-169076400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:169074800-169076400	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr1:169074800-169076400	Active TSS	Brain Angular Gyrus	brain
16	chr1:169074800-169076400	Active TSS	HSMMtube	muscle
17	chr1:169074800-169076600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:169074800-169076600	Active TSS	A549	lung
19	chr1:169074800-169077000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:169074800-169077000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:169074800-169077000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:169074800-169077000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:169074800-169077000	Active TSS	HSMM	muscle
24	chr1:169074800-169077200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:169074800-169077200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:169074800-169077200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:169074800-169077200	Active TSS	Duodenum Mucosa	Duodenum
28	chr1:169074800-169077400	Active TSS	Brain Germinal Matrix	brain
29	chr1:169074800-169077600	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:169074800-169078000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:169074800-169078000	Active TSS	Ovary	ovary
32	chr1:169074800-169078000	Active TSS	Psoas Muscle	Psoas
33	chr1:169074800-169078200	Active TSS	Small Intestine	intestine
34	chr1:169074800-169078800	Active TSS	Brain Substantia Nigra	brain
35	chr1:169074800-169079000	Active TSS	Fetal Kidney	kidney
36	chr1:169074800-169079200	Active TSS	Brain Hippocampus Middle	brain
37	chr1:169074800-169079400	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr1:169074800-169079600	Active TSS	Stomach Mucosa	stomach
39	chr1:169074800-169079800	Active TSS	Left Ventricle	heart
40	chr1:169074800-169080400	Active TSS	Right Ventricle	heart
41	chr1:169074800-169080800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:169075000-169075600	Active TSS	Right Atrium	heart
43	chr1:169075000-169076000	Weak transcription	Fetal Brain Male	brain
44	chr1:169075000-169076000	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr1:169075000-169076000	Active TSS	Spleen	Spleen
46	chr1:169075000-169076000	Active TSS	HepG2	liver
47	chr1:169075000-169076200	Active TSS	Primary B cells from peripheral blood	blood
48	chr1:169075000-169076200	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr1:169075000-169076200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:169075000-169076200	Active TSS	Primary T helper cells PMA-I stimulated	--

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