Variant report

Variant	rs538928213
Chromosome Location	chr6:13574135-13574136
allele	-/CAGT
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	CTCF	chr6:13574132-13574198	Lung_OC	lung:	n/a	n/a
2	CTCF	chr6:13574000-13574150	HPF	lung:	n/a	n/a
3	MYC	chr6:13573982-13574199	MCF-7	breast:	n/a	chr6:13574087-13574096 chr6:13574086-13574097
4	POLR2A	chr6:13573481-13575699	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:13574091-13575803	PFSK-1	brain:	n/a	n/a
6	MAX	chr6:13573740-13575770	HepG2	liver:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
7	TBL1XR1	chr6:13573920-13574186	K562	blood:	n/a	n/a
8	POLR2A	chr6:13573785-13575707	K562	blood:	n/a	n/a
9	E2F6	chr6:13573834-13575779	H1-hESC	embryonic stem cell:	n/a	chr6:13574810-13574819 chr6:13574693-13574702 chr6:13573938-13573949 chr6:13574489-13574498
10	IRF1	chr6:13574120-13575745	K562	blood:	n/a	chr6:13574809-13574823
11	MAX	chr6:13573847-13574374	H1-hESC	embryonic stem cell:	n/a	chr6:13574087-13574096 chr6:13574086-13574097
12	RCOR1	chr6:13573945-13575808	K562	blood:	n/a	n/a
13	CTCF	chr6:13574131-13574183	GM12891	blood:	n/a	n/a
14	MYC	chr6:13574027-13574186	HUVEC	blood vessel:	n/a	chr6:13574087-13574096 chr6:13574086-13574097
15	CBX3	chr6:13573678-13575818	K562	blood:	n/a	n/a
16	POLR2A	chr6:13573659-13575749	GM12878	blood:	n/a	n/a
17	BHLHE40	chr6:13573895-13575697	K562	blood:	n/a	chr6:13574455-13574471 chr6:13574644-13574660
18	BHLHE40	chr6:13573928-13575695	HepG2	liver:	n/a	chr6:13574455-13574471 chr6:13574644-13574660
19	POLR2A	chr6:13574046-13575656	GM18951	blood:	n/a	n/a
20	CTCF	chr6:13574132-13574199	Pancreas_OC	pancreas:	n/a	n/a
21	MYC	chr6:13573890-13575711	Hela-S3	cervix:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
22	MAX	chr6:13573962-13575744	Hela-S3	cervix:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
23	MYC	chr6:13573735-13575740	MCF10A-Er-Src	breast:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
24	MYC	chr6:13574050-13575720	K562	blood:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
25	CTCF	chr6:13574080-13574230	GM12868	blood:	n/a	n/a
26	POLR2A	chr6:13573641-13575660	PBDE	blood:	n/a	n/a
27	POLR2A	chr6:13573985-13574240	A549	lung:	n/a	n/a
28	CTCF	chr6:13574049-13575823	K562	blood:	n/a	chr6:13574453-13574466 chr6:13574526-13574539 chr6:13575618-13575639 chr6:13575625-13575638 chr6:13575623-13575641 chr6:13575629-13575638
29	CTCF	chr6:13574067-13574204	GM12892	blood:	n/a	n/a
30	TBP	chr6:13574032-13575735	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAZ	chr6:13574022-13575758	K562	blood:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
32	MAX	chr6:13573772-13575705	MCF-7	breast:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
33	CTCF	chr6:13574020-13574170	HBMEC	blood vessel:	n/a	n/a
34	POLR2A	chr6:13574056-13575611	Gliobla	brain:	n/a	n/a
35	POLR2A	chr6:13573504-13575741	HepG2	liver:	n/a	n/a
36	CTCF	chr6:13574120-13574270	HEEpiC	esophagus:	n/a	n/a
37	CHD2	chr6:13573870-13575705	Hela-S3	cervix:	n/a	chr6:13574811-13574821 chr6:13574840-13574850
38	RAD21	chr6:13574006-13574675	IMR90	lung:	n/a	chr6:13574644-13574658 chr6:13574528-13574542
39	MAX	chr6:13573794-13574362	MCF-7	breast:	n/a	chr6:13574087-13574096 chr6:13574086-13574097
40	CTCF	chr6:13574100-13574250	HVMF	connective:	n/a	n/a
41	MYC	chr6:13573778-13575771	K562	blood:	n/a	chr6:13575017-13575027 chr6:13574087-13574096 chr6:13574086-13574097
42	POLR2A	chr6:13573794-13575765	HUVEC	blood vessel:	n/a	n/a
43	BRCA1	chr6:13573978-13574847	H1-hESC	embryonic stem cell:	n/a	chr6:13574622-13574631
44	POLR2A	chr6:13574036-13575087	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr6:13573544-13575783	K562	blood:	n/a	n/a
46	MYC	chr6:13573908-13574265	MCF10A-Er-Src	breast:	n/a	chr6:13574087-13574096 chr6:13574086-13574097
47	ZNF143	chr6:13573746-13575775	K562	blood:	n/a	chr6:13574802-13574820 chr6:13574764-13574779 chr6:13574326-13574345 chr6:13574550-13574560
48	MYBL2	chr6:13573833-13574346	HepG2	liver:	n/a	n/a
49	CTCF	chr6:13574060-13574210	SK-N-SH_RA	brain:	n/a	n/a
50	POLR2A	chr6:13573919-13575726	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13574091-13574141	GM06990	blood:	n/a
2	chr6:13574091-13574141	Hela-S3	cervix:	n/a
3	chr6:13574091-13574141	HEK293	kidney:	embryo
4	chr6:13574091-13574141	HNPCEpiC	eye:	n/a
5	chr6:13574091-13574141	T-47D	breast:	n/a
6	chr6:13574091-13574141	CMK	blood:	n/a
7	chr6:13574091-13574141	PrEC	prostate:	n/a
8	chr6:13574091-13574141	HCPEpiC	choroid plexus:	n/a
9	chr6:13574091-13574141	AG04450	lung:	fetal
10	chr6:13574091-13574141	HRCEpiC	kidney:	n/a
11	chr6:13574091-13574141	SK-N-SH_RA	brain:	n/a
12	chr6:13574091-13574141	HUVEC	blood vessel:	n/a
13	chr6:13574091-13574141	ProgFib	skin:	n/a
14	chr6:13574091-13574141	GM12892	blood:	n/a
15	chr6:13574091-13574141	AoSMC	blood vessel:	n/a
16	chr6:13574091-13574141	SK-N-SH	brain:	n/a
17	chr6:13574091-13574141	AG10803	skin:	n/a
18	chr6:13574091-13574141	BJ	skin:	n/a
19	chr6:13574091-13574141	HepG2	liver:	n/a
20	chr6:13574091-13574141	HL-60	blood:	n/a
21	chr6:13574091-13574141	HPAEpiC	pulmonary alveolar:	n/a
22	chr6:13574091-13574141	HCF	heart:	n/a
23	chr6:13574091-13574141	GM12891	blood:	n/a
24	chr6:13574091-13574141	U87	brain:	n/a
25	chr6:13574091-13574141	GM12878	blood:	n/a
26	chr6:13574091-13574141	SK-N-MC	brain:	n/a
27	chr6:13574091-13574141	NHDF-neo	bronchial:	n/a
28	chr6:13574091-13574141	HRPEpiC	eye:	n/a
29	chr6:13574091-13574141	HAEpiC	amniotic membrane:	n/a
30	chr6:13574091-13574141	H1-hESC	embryonic stem cell:	embryo
31	chr6:13574091-13574141	Jurkat	blood:	n/a
32	chr6:13574091-13574141	AG04449	skin:	fetal
33	chr6:13574091-13574141	HCM	heart:	n/a
34	chr6:13574091-13574141	K562	blood:	n/a
35	chr6:13574091-13574141	HIPEpiC	eye:	n/a
36	chr6:13574091-13574141	BE2_C	brain:	n/a
37	chr6:13574091-13574141	HRE	kidney:	n/a
38	chr6:13574091-13574141	LNCaP	prostate:	n/a
39	chr6:13574091-13574141	Hepatocyte	liver:	n/a
40	chr6:13574091-13574141	PFSK-1	brain:	n/a
41	chr6:13574091-13574141	IMR90	lung:	fetal
42	chr6:13574091-13574141	AG09319	gingival:	n/a
43	chr6:13574091-13574141	ovcar-3	ovarian:	n/a
44	chr6:13574091-13574141	NT2-D1	testis:	n/a
45	chr6:13574091-13574141	NHBE	bronchial:	n/a
46	chr6:13574091-13574141	RPTEC	kidney:	n/a
47	chr6:13574091-13574141	Caco-2	colon:	n/a
48	chr6:13574091-13574141	GM19239	blood:	n/a
49	chr6:13574091-13574141	HCT-116	colon:	n/a
50	chr6:13574091-13574141	HMEC	breast:	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	chr3:129032834..129033727-chr6:13574050..13574658,2	Hela-S3	cervix:
9	chr21:46821773..46824180-chr6:13571587..13574488,2	MCF-7	breast:
10	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
11	chr6:13397579..13400126-chr6:13573111..13574727,2	MCF-7	breast:
12	chr6:13571943..13574615-chr6:13703735..13706256,3	K562	blood:
13	chr6:13573004..13578027-chr6:13613856..13617870,10	MCF-7	breast:
14	chr6:13571943..13574615-chr6:13703735..13705553,2	K562	blood:
15	chr6:13572493..13576795-chr6:13677578..13681816,6	K562	blood:
16	chr6:13406137..13408577-chr6:13573927..13576170,2	MCF-7	breast:
17	chr6:13572923..13577086-chr6:13614342..13617597,6	K562	blood:
18	chr6:13573217..13575552-chr6:13711779..13713289,2	K562	blood:
19	chr6:13572531..13574981-chr6:13813241..13815537,2	K562	blood:
20	chr6:13572776..13574707-chr6:13619444..13621662,2	MCF-7	breast:
21	chr6:13287477..13291631-chr6:13573758..13576939,3	K562	blood:
22	chr6:13572897..13576165-chr6:13620913..13622919,3	K562	blood:
23	chr6:13274197..13275936-chr6:13573987..13576342,2	K562	blood:
24	chr6:13574068..13574860-chr6:13615468..13616038,2	K562	blood:
25	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
26	chr6:13572865..13577994-chr6:13612366..13619020,17	K562	blood:
27	chr6:13280798..13285135-chr6:13573249..13575552,3	K562	blood:
28	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
SIRT5	CpG island
ENSG00000010017	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000268059	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000252966	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000272379	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000187461	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13573400-13575800	Active TSS	A549	lung
2	chr6:13573600-13574200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:13573600-13574200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:13573600-13574200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:13573600-13574200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:13573600-13574200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:13573600-13574200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:13573600-13574200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:13573600-13574200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:13573600-13574200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:13573600-13574200	Flanking Active TSS	Liver	Liver
12	chr6:13573600-13574200	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr6:13573600-13574200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:13573600-13574200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:13573600-13574200	Flanking Active TSS	Esophagus	oesophagus
16	chr6:13573600-13574200	Flanking Active TSS	Fetal Heart	heart
17	chr6:13573600-13574200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr6:13573600-13574200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr6:13573600-13574200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:13573600-13574200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr6:13573600-13574200	Flanking Active TSS	Hela-S3	cervix
22	chr6:13573600-13574200	Flanking Active TSS	HepG2	liver
23	chr6:13573600-13574200	Flanking Active TSS	HMEC	breast
24	chr6:13573600-13574200	Flanking Active TSS	HSMMtube	muscle
25	chr6:13573600-13574200	Flanking Active TSS	K562	blood
26	chr6:13573600-13574200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr6:13573600-13574200	Flanking Active TSS	NHEK	skin
28	chr6:13573600-13574200	Flanking Active TSS	Osteobl	bone
29	chr6:13573600-13574400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:13573600-13574400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr6:13573600-13575600	Active TSS	Right Ventricle	heart
32	chr6:13573800-13574200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr6:13573800-13574200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:13573800-13574200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:13573800-13574200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:13573800-13574200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:13573800-13574200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:13573800-13574200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:13573800-13574200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:13573800-13574200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr6:13573800-13574200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:13573800-13574200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:13573800-13574200	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr6:13573800-13574200	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr6:13573800-13574200	Flanking Active TSS	Colonic Mucosa	Colon
46	chr6:13573800-13574200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr6:13573800-13574200	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr6:13573800-13574200	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr6:13573800-13574200	Flanking Active TSS	Fetal Kidney	kidney
50	chr6:13573800-13574200	Flanking Active TSS	Fetal Muscle Leg	muscle

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