Variant report

Variant	rs546261621
Chromosome Location	chr6:30182508-30182509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30180643-30182514	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:30180625-30182700	GM12892	blood:	n/a	n/a
3	POLR2A	chr6:30180647-30182600	GM12878	blood:	n/a	n/a
4	RELA	chr6:30180716-30182511	GM15510	blood:	n/a	n/a
5	RFX5	chr6:30182491-30182520	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:30180707-30182590	HL-60	blood:	n/a	n/a
7	POLR2A	chr6:30180590-30182779	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:30179620-30182788	H1-hESC	embryonic stem cell:	n/a	n/a
9	HCFC1	chr6:30180490-30182758	Hela-S3	cervix:	n/a	n/a
10	ZBTB7A	chr6:30181765-30182590	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr6:30180857-30182555	GM18526	blood:	n/a	n/a
12	POLR2A	chr6:30181665-30182536	GM12892	blood:	n/a	n/a
13	RFX5	chr6:30180199-30182526	Hela-S3	cervix:	n/a	n/a
14	CREB1	chr6:30180668-30182724	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:30180910-30182576	GM10847	blood:	n/a	n/a
16	MXI1	chr6:30179854-30182737	SK-N-SH	brain:	n/a	n/a
17	MAX	chr6:30180705-30182606	A549	lung:	n/a	chr6:30181938-30181948
18	MAZ	chr6:30180626-30182633	IMR90	lung:	n/a	chr6:30181938-30181948
19	POLR2A	chr6:30180643-30182580	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:30180777-30182534	Raji	blood:	n/a	n/a
21	MAX	chr6:30180660-30182722	HepG2	liver:	n/a	chr6:30181938-30181948
22	POLR2A	chr6:30180757-30182518	GM12878	blood:	n/a	n/a
23	MYC	chr6:30180895-30182513	NB4	blood:	n/a	chr6:30181938-30181948
24	POLR2A	chr6:30180786-30182530	GM15510	blood:	n/a	n/a
25	POLR2A	chr6:30180776-30182550	GM12891	blood:	n/a	n/a
26	POU2F2	chr6:30180664-30182605	GM12878	blood:	n/a	n/a
27	ELF1	chr6:30180589-30182511	MCF-7	breast:	n/a	chr6:30182080-30182089 chr6:30182119-30182128
28	POLR2A	chr6:30180726-30182624	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:30180677-30182520	GM12892	blood:	n/a	n/a
30	TBP	chr6:30180763-30182555	GM12878	blood:	n/a	n/a
31	POU2F2	chr6:30182199-30182535	GM12891	blood:	n/a	n/a
32	CEBPB	chr6:30182258-30182538	HepG2	liver:	n/a	chr6:30182375-30182388
33	POLR2A	chr6:30180730-30182561	GM12892	blood:	n/a	n/a
34	POLR2A	chr6:30180671-30182515	GM18505	blood:	n/a	n/a
35	HEY1	chr6:30180787-30182574	HepG2	liver:	n/a	n/a
36	RUNX3	chr6:30180695-30182656	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:30180760-30182750	HepG2	liver:	n/a	n/a
38	TBP	chr6:30180667-30182585	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr6:30180716-30182598	NB4	blood:	n/a	chr6:30181938-30181948
40	POLR2A	chr6:30180609-30182657	GM12892	blood:	n/a	n/a
41	MAX	chr6:30180704-30182681	H1-hESC	embryonic stem cell:	n/a	chr6:30181938-30181948
42	MAX	chr6:30180707-30182750	HepG2	liver:	n/a	chr6:30181938-30181948
43	POLR2A	chr6:30180763-30182533	GM19099	blood:	n/a	n/a
44	CHD2	chr6:30180781-30182509	GM12878	blood:	n/a	n/a
45	E2F6	chr6:30180626-30182722	H1-hESC	embryonic stem cell:	n/a	chr6:30181418-30181426 chr6:30180996-30181006 chr6:30181418-30181425 chr6:30181418-30181429 chr6:30182075-30182085 chr6:30181418-30181426 chr6:30181418-30181429 chr6:30180796-30180806 chr6:30181415-30181432 chr6:30182017-30182027 chr6:30181933-30181942 chr6:30181418-30181429 chr6:30181415-30181432
46	MTA3	chr6:30180618-30182753	GM12878	blood:	n/a	n/a
47	MAX	chr6:30180540-30182675	HCT-116	colon:	n/a	chr6:30181938-30181948
48	MBD4	chr6:30181176-30182548	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:30180869-30182519	GM12891	blood:	n/a	n/a
50	PML	chr6:30180529-30182529	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30182507-30182557	HRCEpiC	kidney:	n/a
2	chr6:30182507-30182557	LNCaP	prostate:	n/a
3	chr6:30182507-30182557	HEK293	kidney:	embryo
4	chr6:30182507-30182557	BJ	skin:	n/a
5	chr6:30182507-30182557	HepG2	liver:	n/a
6	chr6:30182507-30182557	SK-N-SH_RA	brain:	n/a
7	chr6:30182507-30182557	MCF-7	breast:	n/a
8	chr6:30182507-30182557	Caco-2	colon:	n/a
9	chr6:30182507-30182557	HCPEpiC	choroid plexus:	n/a
10	chr6:30182507-30182557	HEEpiC	esophagus:	n/a
11	chr6:30182507-30182557	GM19239	blood:	n/a
12	chr6:30182507-30182557	RPTEC	kidney:	n/a
13	chr6:30182507-30182557	PFSK-1	brain:	n/a
14	chr6:30182507-30182557	NT2-D1	testis:	n/a
15	chr6:30182507-30182557	HRPEpiC	eye:	n/a
16	chr6:30182507-30182557	H1-hESC	embryonic stem cell:	embryo
17	chr6:30182507-30182557	GM12892	blood:	n/a
18	chr6:30182507-30182557	HIPEpiC	eye:	n/a
19	chr6:30182507-30182557	HCF	heart:	n/a
20	chr6:30182507-30182557	PrEC	prostate:	n/a
21	chr6:30182507-30182557	AG09319	gingival:	n/a
22	chr6:30182507-30182557	HNPCEpiC	eye:	n/a
23	chr6:30182507-30182557	AG04449	skin:	fetal
24	chr6:30182507-30182557	HRE	kidney:	n/a
25	chr6:30182507-30182557	SK-N-MC	brain:	n/a
26	chr6:30182507-30182557	ProgFib	skin:	n/a
27	chr6:30182507-30182557	SAEC	small airway:	n/a
28	chr6:30182507-30182557	MCF10A-Er-Src	breast:	n/a
29	chr6:30182507-30182557	A549	lung:	n/a
30	chr6:30182507-30182557	GM06990	blood:	n/a
31	chr6:30182507-30182557	NH-A	brain:	n/a
32	chr6:30182507-30182557	HUVEC	blood vessel:	n/a
33	chr6:30182507-30182557	HMEC	breast:	n/a
34	chr6:30182507-30182557	HAEpiC	amniotic membrane:	n/a
35	chr6:30182507-30182557	ECC-1	luminal epithelium:	n/a
36	chr6:30182507-30182557	Hepatocyte	liver:	n/a
37	chr6:30182507-30182557	GM12878	blood:	n/a
38	chr6:30182507-30182557	NHDF-neo	bronchial:	n/a
39	chr6:30182507-30182557	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:30182507-30182557	Hela-S3	cervix:	n/a
41	chr6:30182507-30182557	HL-60	blood:	n/a
42	chr6:30182507-30182557	AG04450	lung:	fetal
43	chr6:30182507-30182557	HCM	heart:	n/a
44	chr6:30182507-30182557	SK-N-SH	brain:	n/a
45	chr6:30182507-30182557	ovcar-3	ovarian:	n/a
46	chr6:30182507-30182557	CMK	blood:	n/a
47	chr6:30182507-30182557	AoSMC	blood vessel:	n/a
48	chr6:30182507-30182557	GM12891	blood:	n/a
49	chr6:30182507-30182557	AG10803	skin:	n/a
50	chr6:30182507-30182557	BE2_C	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30033185..30035212-chr6:30180473..30182741,2	MCF-7	breast:
2	chr6:30156337..30158600-chr6:30180750..30182606,2	MCF-7	breast:
3	chr6:30178310..30184484-chr6:30311860..30320436,13	MCF-7	breast:
4	chr15:75744964..75747465-chr6:30180922..30182722,2	MCF-7	breast:
5	chr6:30182391..30184727-chr6:30190494..30193163,2	MCF-7	breast:
6	chr6:30182145..30184666-chr6:30223310..30225294,2	MCF-7	breast:
7	chr6:30180733..30183619-chr6:30310467..30312981,3	MCF-7	breast:
8	chr6:30068684..30075353-chr6:30179679..30184952,7	MCF-7	breast:
9	chr6:30178635..30184988-chr6:30292357..30296104,9	MCF-7	breast:
10	chr6:30181485..30183400-chr6:30291563..30295527,5	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM26	TF binding region
TRIM26	CpG island
ENSG00000234127	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000241370	Chromatin interaction
ENSG00000231226	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000204616	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000233892	Chromatin interaction
ENSG00000224372	Chromatin interaction
ENSG00000204619	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv884058	chr6:30182395-30202429	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30179800-30182600	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr6:30179800-30182600	Active TSS	Lung	lung
3	chr6:30180000-30182600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:30180000-30182600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:30180000-30182600	Active TSS	Psoas Muscle	Psoas
6	chr6:30180000-30182600	Active TSS	Right Atrium	heart
7	chr6:30180200-30182600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:30180200-30182600	Active TSS	Fetal Lung	lung
9	chr6:30180200-30182600	Active TSS	HSMMtube	muscle
10	chr6:30180200-30182800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:30180400-30182600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:30180400-30182600	Active TSS	Brain Angular Gyrus	brain
13	chr6:30180400-30182600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:30180400-30182600	Active TSS	Small Intestine	intestine
15	chr6:30180400-30182800	Active TSS	HSMM	muscle
16	chr6:30180600-30182600	Active TSS	Pancreas	Pancrea
17	chr6:30180600-30182800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:30180600-30182800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr6:30181400-30182600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr6:30181400-30182600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr6:30181400-30182600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr6:30181400-30182600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr6:30181400-30182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:30181400-30182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:30181400-30182600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr6:30181400-30182600	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr6:30181400-30182600	Flanking Active TSS	Hela-S3	cervix
28	chr6:30181400-30182600	Flanking Active TSS	HMEC	breast
29	chr6:30181400-30182600	Flanking Active TSS	HUVEC	blood vessel
30	chr6:30181400-30182800	Flanking Active TSS	Dnd41	blood
31	chr6:30181600-30182600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr6:30181600-30182600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:30182000-30182600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr6:30182000-30182600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:30182000-30182600	Flanking Active TSS	Fetal Brain Female	brain
36	chr6:30182000-30182600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr6:30182000-30182800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr6:30182200-30182600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:30182200-30182600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr6:30182200-30182600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:30182200-30182600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:30182200-30182600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr6:30182200-30182600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr6:30182200-30182600	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr6:30182200-30182600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:30182200-30182600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr6:30182200-30182600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr6:30182200-30182600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:30182200-30182600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:30182200-30182600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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