Variant report

Variant	rs558668463
Chromosome Location	chr6:13573632-13573633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

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	POLR2A	chr6:13573504-13575741	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:13573544-13575783	K562	blood:	n/a	n/a
4	POLR2A	chr6:13571397-13575713	GM12891	blood:	n/a	n/a
5	HCFC1	chr6:13573290-13575937	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr6:13573613-13575712	IMR90	lung:	n/a	n/a
7	POLR2A	chr6:13573502-13573757	HCT-116	colon:	n/a	n/a
8	JUN	chr6:13573478-13575888	K562	blood:	n/a	chr6:13574809-13574818 chr6:13574132-13574143 chr6:13575500-13575514 chr6:13574525-13574534
9	GATA1	chr6:13573091-13573656	PBDE	blood:	n/a	n/a
10	MXI1	chr6:13573562-13576176	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr6:13571237-13575938	MCF10A-Er-Src	breast:	n/a	n/a
12	MAFK	chr6:13573551-13573720	K562	blood:	n/a	n/a
13	POLR2A	chr6:13573495-13574316	HepG2	liver:	n/a	n/a
14	RAD21	chr6:13573616-13575978	SK-N-SH	brain:	n/a	chr6:13574644-13574658 chr6:13575621-13575640 chr6:13574528-13574542
15	POLR2A	chr6:13573499-13573908	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr6:13573436-13574352	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:13571477-13576346	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr6:13573526-13574155	HepG2	liver:	n/a	n/a
19	HEY1	chr6:13573168-13574089	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:13571250-13574366	SK-N-MC	brain:	n/a	n/a
21	MAZ	chr6:13573489-13575776	IMR90	lung:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
22	POLR2A	chr6:13572630-13576245	HepG2	liver:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

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	chr6:13572897..13576165-chr6:13620913..13622919,3	K562	blood:
20	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
21	chr6:13572865..13577994-chr6:13612366..13619020,17	K562	blood:
22	chr6:13280798..13285135-chr6:13573249..13575552,3	K562	blood:

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
SIRT5	TF binding region
ENSG00000215022	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000268059	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000252966	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000145990	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13560400-13573800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:13570200-13573800	Weak transcription	Fetal Intestine Large	intestine
3	chr6:13570400-13573800	Weak transcription	Spleen	Spleen
4	chr6:13570600-13573800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:13571800-13573800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:13572000-13573800	Weak transcription	Primary B cells from cord blood	blood
7	chr6:13572000-13573800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:13572600-13573800	Enhancers	Brain Cingulate Gyrus	brain
9	chr6:13572800-13574000	Weak transcription	Aorta	Aorta
10	chr6:13573200-13573800	Enhancers	Fetal Brain Female	brain
11	chr6:13573200-13574000	Enhancers	Brain Substantia Nigra	brain
12	chr6:13573400-13573800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:13573400-13573800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:13573400-13573800	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:13573400-13573800	Enhancers	Brain Hippocampus Middle	brain
16	chr6:13573400-13573800	Enhancers	Colon Smooth Muscle	Colon
17	chr6:13573400-13573800	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:13573400-13573800	Enhancers	Placenta	Placenta
19	chr6:13573400-13574000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:13573400-13575800	Active TSS	A549	lung
21	chr6:13573600-13573800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr6:13573600-13573800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:13573600-13573800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:13573600-13573800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:13573600-13573800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:13573600-13573800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:13573600-13573800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:13573600-13573800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr6:13573600-13573800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:13573600-13573800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:13573600-13573800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:13573600-13573800	Enhancers	Adipose Nuclei	Adipose
33	chr6:13573600-13573800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:13573600-13573800	Enhancers	Colonic Mucosa	Colon
35	chr6:13573600-13573800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:13573600-13573800	Enhancers	Fetal Stomach	stomach
37	chr6:13573600-13573800	Enhancers	Left Ventricle	heart
38	chr6:13573600-13573800	Enhancers	Psoas Muscle	Psoas
39	chr6:13573600-13573800	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:13573600-13573800	Enhancers	Right Atrium	heart
41	chr6:13573600-13573800	Enhancers	Stomach Mucosa	stomach
42	chr6:13573600-13573800	Enhancers	Thymus	Thymus
43	chr6:13573600-13573800	Enhancers	Dnd41	blood
44	chr6:13573600-13573800	Enhancers	HSMM	muscle
45	chr6:13573600-13573800	Enhancers	HUVEC	blood vessel
46	chr6:13573600-13573800	Enhancers	NH-A	brain
47	chr6:13573600-13573800	Enhancers	NHDF-Ad	bronchial
48	chr6:13573600-13574000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr6:13573600-13574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:13573600-13574000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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