Variant report

Variant	rs564730776
Chromosome Location	chr6:13573804-13573805
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	POLR2A	chr6:13573481-13575699	MCF-7	breast:	n/a	n/a
2	MAX	chr6:13573740-13575770	HepG2	liver:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
3	POLR2A	chr6:13573785-13575707	K562	blood:	n/a	n/a
4	CTCF	chr6:13573720-13573870	AG09319	gingival:	n/a	chr6:13573837-13573845
5	CBX3	chr6:13573678-13575818	K562	blood:	n/a	n/a
6	CTCF	chr6:13573780-13573930	AG09309	skin:	n/a	chr6:13573837-13573845
7	POLR2A	chr6:13573659-13575749	GM12878	blood:	n/a	n/a
8	HEY1	chr6:13573703-13573968	HepG2	liver:	n/a	n/a
9	MYC	chr6:13573735-13575740	MCF10A-Er-Src	breast:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
10	POLR2A	chr6:13573641-13575660	PBDE	blood:	n/a	n/a
11	MAX	chr6:13573772-13575705	MCF-7	breast:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
12	POLR2A	chr6:13573504-13575741	HepG2	liver:	n/a	n/a
13	MAX	chr6:13573794-13574362	MCF-7	breast:	n/a	chr6:13574087-13574096 chr6:13574086-13574097
14	MYC	chr6:13573778-13575771	K562	blood:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
15	POLR2A	chr6:13573794-13575765	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr6:13573544-13575783	K562	blood:	n/a	n/a
17	ZNF143	chr6:13573746-13575775	K562	blood:	n/a	chr6:13574802-13574820 chr6:13574764-13574779 chr6:13574326-13574345 chr6:13574550-13574560
18	POLR2A	chr6:13571397-13575713	GM12891	blood:	n/a	n/a
19	MAX	chr6:13573750-13575747	K562	blood:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
20	HCFC1	chr6:13573290-13575937	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr6:13573613-13575712	IMR90	lung:	n/a	n/a
22	SIN3AK20	chr6:13573720-13575942	MCF-7	breast:	n/a	n/a
23	UBTF	chr6:13573728-13575704	K562	blood:	n/a	n/a
24	JUN	chr6:13573478-13575888	K562	blood:	n/a	chr6:13574809-13574818 chr6:13574132-13574143 chr6:13575500-13575514 chr6:13574525-13574534
25	POLR2A	chr6:13573788-13575805	K562	blood:	n/a	n/a
26	CHD1	chr6:13573764-13574165	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr6:13573780-13573930	GM12874	blood:	n/a	chr6:13573837-13573845
28	MXI1	chr6:13573562-13576176	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr6:13573637-13575730	Hela-S3	cervix:	n/a	n/a
30	EP300	chr6:13573756-13573840	K562	blood:	n/a	n/a
31	POLR2A	chr6:13573793-13575772	K562	blood:	n/a	n/a
32	POLR2A	chr6:13571237-13575938	MCF10A-Er-Src	breast:	n/a	n/a
33	MAX	chr6:13573786-13574238	H1-hESC	embryonic stem cell:	n/a	chr6:13574087-13574096 chr6:13574086-13574097
34	POLR2A	chr6:13573495-13574316	HepG2	liver:	n/a	n/a
35	MAX	chr6:13573756-13574196	A549	lung:	n/a	chr6:13574087-13574096 chr6:13574086-13574097
36	POLR2A	chr6:13573686-13574352	HCT-116	colon:	n/a	n/a
37	RAD21	chr6:13573616-13575978	SK-N-SH	brain:	n/a	chr6:13574644-13574658 chr6:13575621-13575640 chr6:13574528-13574542
38	POLR2A	chr6:13573499-13573908	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr6:13573436-13574352	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:13571477-13576346	MCF10A-Er-Src	breast:	n/a	n/a
41	MAX	chr6:13573639-13575772	HepG2	liver:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
42	POLR2A	chr6:13573526-13574155	HepG2	liver:	n/a	n/a
43	MAX	chr6:13573775-13575791	A549	lung:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
44	BRCA1	chr6:13573754-13575690	Hela-S3	cervix:	n/a	chr6:13574622-13574631
45	HEY1	chr6:13573168-13574089	HepG2	liver:	n/a	n/a
46	POLR2A	chr6:13571250-13574366	SK-N-MC	brain:	n/a	n/a
47	EP300	chr6:13573669-13573823	K562	blood:	n/a	n/a
48	MAX	chr6:13573654-13575764	HCT-116	colon:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
49	MAZ	chr6:13573489-13575776	IMR90	lung:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
50	POLR2A	chr6:13572630-13576245	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
2	chr6:13572897..13576165-chr6:13619318..13622919,5	K562	blood:
3	chr6:13573088..13576408-chr6:13709684..13713261,5	MCF-7	breast:
4	chr6:13572710..13576955-chr6:13610549..13618685,22	MCF-7	breast:
5	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:
6	chr6:13573058..13574612-chr6:13812488..13814819,2	MCF-7	breast:
7	chr6:13573221..13576787-chr6:13710917..13713733,6	K562	blood:
8	chr21:46821773..46824180-chr6:13571587..13574488,2	MCF-7	breast:
9	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
10	chr6:13397579..13400126-chr6:13573111..13574727,2	MCF-7	breast:
11	chr6:13571943..13574615-chr6:13703735..13706256,3	K562	blood:
12	chr6:13573004..13578027-chr6:13613856..13617870,10	MCF-7	breast:
13	chr6:13571943..13574615-chr6:13703735..13705553,2	K562	blood:
14	chr6:13572493..13576795-chr6:13677578..13681816,6	K562	blood:
15	chr6:13572923..13577086-chr6:13614342..13617597,6	K562	blood:
16	chr6:13573217..13575552-chr6:13711779..13713289,2	K562	blood:
17	chr6:13572531..13574981-chr6:13813241..13815537,2	K562	blood:
18	chr6:13572776..13574707-chr6:13619444..13621662,2	MCF-7	breast:
19	chr6:13287477..13291631-chr6:13573758..13576939,3	K562	blood:
20	chr6:13572897..13576165-chr6:13620913..13622919,3	K562	blood:
21	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
22	chr6:13572865..13577994-chr6:13612366..13619020,17	K562	blood:
23	chr6:13280798..13285135-chr6:13573249..13575552,3	K562	blood:
24	chr6:13327393..13331113-chr6:13573725..13577168,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RANBP9-2	chr6:13572305-13574446	NONHSAT107810

Variant related genes	Relation type
SIRT5	TF binding region
ENSG00000145990	Chromatin interaction
ENSG00000252966	Chromatin interaction
ENSG00000268059	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000272379	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	esv3367329	chr6:13573423-13576971	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13572800-13574000	Weak transcription	Aorta	Aorta
2	chr6:13573200-13574000	Enhancers	Brain Substantia Nigra	brain
3	chr6:13573400-13574000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:13573400-13575800	Active TSS	A549	lung
5	chr6:13573600-13574000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:13573600-13574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:13573600-13574000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:13573600-13574000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:13573600-13574000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:13573600-13574000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:13573600-13574000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:13573600-13574000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:13573600-13574000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:13573600-13574000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr6:13573600-13574000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:13573600-13574000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr6:13573600-13574000	Enhancers	Fetal Lung	lung
18	chr6:13573600-13574000	Enhancers	Fetal Thymus	thymus
19	chr6:13573600-13574000	Enhancers	Lung	lung
20	chr6:13573600-13574000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:13573600-13574200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:13573600-13574200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:13573600-13574200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:13573600-13574200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:13573600-13574200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr6:13573600-13574200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:13573600-13574200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:13573600-13574200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:13573600-13574200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:13573600-13574200	Flanking Active TSS	Liver	Liver
31	chr6:13573600-13574200	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr6:13573600-13574200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr6:13573600-13574200	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr6:13573600-13574200	Flanking Active TSS	Esophagus	oesophagus
35	chr6:13573600-13574200	Flanking Active TSS	Fetal Heart	heart
36	chr6:13573600-13574200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr6:13573600-13574200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr6:13573600-13574200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr6:13573600-13574200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr6:13573600-13574200	Flanking Active TSS	Hela-S3	cervix
41	chr6:13573600-13574200	Flanking Active TSS	HepG2	liver
42	chr6:13573600-13574200	Flanking Active TSS	HMEC	breast
43	chr6:13573600-13574200	Flanking Active TSS	HSMMtube	muscle
44	chr6:13573600-13574200	Flanking Active TSS	K562	blood
45	chr6:13573600-13574200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr6:13573600-13574200	Flanking Active TSS	NHEK	skin
47	chr6:13573600-13574200	Flanking Active TSS	Osteobl	bone
48	chr6:13573600-13574400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:13573600-13574400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr6:13573600-13575600	Active TSS	Right Ventricle	heart

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