Variant report

Variant	rs1345229
Chromosome Location	chr6:30182395-30182396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:113 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr6:30180528-30182503	MCF-7	breast:	n/a	n/a
2	NRF1	chr6:30181986-30182416	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:30180595-30182425	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr6:30180548-30182444	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr6:30180643-30182514	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr6:30180618-30182493	HCT-116	colon:	n/a	n/a
7	ELF1	chr6:30180706-30182437	HCT-116	colon:	n/a	chr6:30182080-30182089 chr6:30182119-30182128
8	HEY1	chr6:30180902-30182414	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:30180625-30182700	GM12892	blood:	n/a	n/a
10	POLR2A	chr6:30180868-30182424	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:30180647-30182600	GM12878	blood:	n/a	n/a
12	MAX	chr6:30180540-30182416	ECC-1	luminal epithelium:	n/a	chr6:30181938-30181948
13	EP300	chr6:30180982-30182450	ECC-1	luminal epithelium:	n/a	chr6:30180990-30181006 chr6:30181363-30181377 chr6:30182078-30182087 chr6:30182017-30182033
14	RELA	chr6:30180716-30182511	GM15510	blood:	n/a	n/a
15	POLR2A	chr6:30180707-30182590	HL-60	blood:	n/a	n/a
16	POLR2A	chr6:30180590-30182779	GM12878	blood:	n/a	n/a
17	MAX	chr6:30180696-30182482	HCT-116	colon:	n/a	chr6:30181938-30181948
18	MXI1	chr6:30180760-30182505	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:30179620-30182788	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr6:30180193-30182401	IMR90	lung:	n/a	n/a
21	HCFC1	chr6:30180490-30182758	Hela-S3	cervix:	n/a	n/a
22	MAX	chr6:30180607-30182489	H1-hESC	embryonic stem cell:	n/a	chr6:30181938-30181948
23	ZBTB7A	chr6:30181765-30182590	ECC-1	luminal epithelium:	n/a	n/a
24	CREB1	chr6:30180777-30182461	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:30180857-30182555	GM18526	blood:	n/a	n/a
26	RELA	chr6:30180761-30182397	GM19099	blood:	n/a	n/a
27	POLR2A	chr6:30181665-30182536	GM12892	blood:	n/a	n/a
28	POLR2A	chr6:30181685-30182482	HepG2	liver:	n/a	n/a
29	RFX5	chr6:30180199-30182526	Hela-S3	cervix:	n/a	n/a
30	CREB1	chr6:30180668-30182724	HepG2	liver:	n/a	n/a
31	MYBL2	chr6:30180595-30182479	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:30180910-30182576	GM10847	blood:	n/a	n/a
33	CEBPB	chr6:30182363-30182424	A549	lung:	n/a	chr6:30182375-30182388
34	MXI1	chr6:30179854-30182737	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr6:30180876-30182502	NB4	blood:	n/a	n/a
36	MAX	chr6:30180705-30182606	A549	lung:	n/a	chr6:30181938-30181948
37	E2F6	chr6:30180903-30182416	A549	lung:	n/a	chr6:30181418-30181426 chr6:30180996-30181006 chr6:30181418-30181425 chr6:30181418-30181429 chr6:30182075-30182085 chr6:30181418-30181426 chr6:30181418-30181429 chr6:30181415-30181432 chr6:30182017-30182027 chr6:30181933-30181942 chr6:30181418-30181429 chr6:30181415-30181432
38	MAZ	chr6:30180626-30182633	IMR90	lung:	n/a	chr6:30181938-30181948
39	POLR2A	chr6:30180643-30182580	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:30180749-30182499	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:30180777-30182534	Raji	blood:	n/a	n/a
42	MAX	chr6:30180660-30182722	HepG2	liver:	n/a	chr6:30181938-30181948
43	POLR2A	chr6:30180757-30182518	GM12878	blood:	n/a	n/a
44	WRNIP1	chr6:30182235-30182501	GM12878	blood:	n/a	n/a
45	MBD4	chr6:30180774-30182398	HepG2	liver:	n/a	n/a
46	MYC	chr6:30180895-30182513	NB4	blood:	n/a	chr6:30181938-30181948
47	POLR2A	chr6:30180786-30182530	GM15510	blood:	n/a	n/a
48	POLR2A	chr6:30180767-30182485	ProgFib	skin:	n/a	n/a
49	POLR2A	chr6:30180776-30182550	GM12891	blood:	n/a	n/a
50	POU2F2	chr6:30180664-30182605	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30182349-30182399	K562	blood:	n/a
2	chr6:30182349-30182399	NH-A	brain:	n/a
3	chr6:30182349-30182399	HL-60	blood:	n/a
4	chr6:30182349-30182399	A549	lung:	n/a
5	chr6:30182349-30182399	MCF10A-Er-Src	breast:	n/a
6	chr6:30182349-30182399	GM06990	blood:	n/a
7	chr6:30182349-30182399	H1-hESC	embryonic stem cell:	embryo
8	chr6:30182349-30182399	HCM	heart:	n/a
9	chr6:30182349-30182399	HCPEpiC	choroid plexus:	n/a
10	chr6:30182349-30182399	NHBE	bronchial:	n/a
11	chr6:30182349-30182399	NB4	blood:	n/a
12	chr6:30182349-30182399	SK-N-SH_RA	brain:	n/a
13	chr6:30182349-30182399	NHDF-neo	bronchial:	n/a
14	chr6:30182349-30182399	AoSMC	blood vessel:	n/a
15	chr6:30182349-30182399	ovcar-3	ovarian:	n/a
16	chr6:30182349-30182399	CMK	blood:	n/a
17	chr6:30182349-30182399	AG04450	lung:	fetal
18	chr6:30182349-30182399	AG09309	skin:	n/a
19	chr6:30182349-30182399	U87	brain:	n/a
20	chr6:30182349-30182399	AG09319	gingival:	n/a
21	chr6:30182349-30182399	HRCEpiC	kidney:	n/a
22	chr6:30182349-30182399	BJ	skin:	n/a
23	chr6:30182349-30182399	HIPEpiC	eye:	n/a
24	chr6:30182349-30182399	PANC-1	pancreas:	n/a
25	chr6:30182349-30182399	SK-N-MC	brain:	n/a
26	chr6:30182349-30182399	HUVEC	blood vessel:	n/a
27	chr6:30182349-30182399	HNPCEpiC	eye:	n/a
28	chr6:30182349-30182399	SK-N-SH	brain:	n/a
29	chr6:30182349-30182399	GM12891	blood:	n/a
30	chr6:30182349-30182399	GM19239	blood:	n/a
31	chr6:30182349-30182399	T-47D	breast:	n/a
32	chr6:30182349-30182399	GM12878	blood:	n/a
33	chr6:30182349-30182399	HCF	heart:	n/a
34	chr6:30182349-30182399	SKMC	muscle:	n/a
35	chr6:30182349-30182399	NT2-D1	testis:	n/a
36	chr6:30182349-30182399	AG10803	skin:	n/a
37	chr6:30182349-30182399	ProgFib	skin:	n/a
38	chr6:30182349-30182399	HepG2	liver:	n/a
39	chr6:30182349-30182399	PFSK-1	brain:	n/a
40	chr6:30182349-30182399	IMR90	lung:	fetal
41	chr6:30182349-30182399	HRPEpiC	eye:	n/a
42	chr6:30182349-30182399	MCF-7	breast:	n/a
43	chr6:30182349-30182399	ECC-1	luminal epithelium:	n/a
44	chr6:30182349-30182399	HCT-116	colon:	n/a
45	chr6:30182349-30182399	Hela-S3	cervix:	n/a
46	chr6:30182349-30182399	GM12892	blood:	n/a
47	chr6:30182349-30182399	SAEC	small airway:	n/a
48	chr6:30182349-30182399	HEEpiC	esophagus:	n/a
49	chr6:30182349-30182399	RPTEC	kidney:	n/a
50	chr6:30182349-30182399	Jurkat	blood:	n/a

(count:11 , 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	chr17:27052665..27053186-chr6:30181676..30182430,2	Hela-S3	cervix:
7	chr6:30182145..30184666-chr6:30223310..30225294,2	MCF-7	breast:
8	chr6:30180733..30183619-chr6:30310467..30312981,3	MCF-7	breast:
9	chr6:30068684..30075353-chr6:30179679..30184952,7	MCF-7	breast:
10	chr6:30178635..30184988-chr6:30292357..30296104,9	MCF-7	breast:
11	chr6:30181485..30183400-chr6:30291563..30295527,5	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM26	TF binding region
TRIM26	CpG island
ENSG00000160602	Chromatin interaction
ENSG00000204619	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000224372	Chromatin interaction
ENSG00000234127	Chromatin interaction
ENSG00000231226	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000204616	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000241370	Chromatin interaction
ENSG00000233892	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2284169	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs59424499	0.88[ASN][1000 genomes]
rs6905949	0.85[ASN][1000 genomes]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30179400-30182400	Active TSS	Fetal Intestine Small	intestine
2	chr6:30179600-30182400	Active TSS	Esophagus	oesophagus
3	chr6:30179800-30182400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:30179800-30182400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:30179800-30182400	Active TSS	Aorta	Aorta
6	chr6:30179800-30182400	Active TSS	A549	lung
7	chr6:30179800-30182600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr6:30179800-30182600	Active TSS	Lung	lung
9	chr6:30180000-30182400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:30180000-30182400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:30180000-30182400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:30180000-30182400	Active TSS	Fetal Intestine Large	intestine
13	chr6:30180000-30182400	Active TSS	Right Ventricle	heart
14	chr6:30180000-30182600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:30180000-30182600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr6:30180000-30182600	Active TSS	Psoas Muscle	Psoas
17	chr6:30180000-30182600	Active TSS	Right Atrium	heart
18	chr6:30180200-30182400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:30180200-30182400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:30180200-30182400	Active TSS	Brain Substantia Nigra	brain
21	chr6:30180200-30182400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:30180200-30182400	Active TSS	Stomach Mucosa	stomach
23	chr6:30180200-30182400	Active TSS	NHDF-Ad	bronchial
24	chr6:30180200-30182400	Active TSS	NHLF	lung
25	chr6:30180200-30182600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:30180200-30182600	Active TSS	Fetal Lung	lung
27	chr6:30180200-30182600	Active TSS	HSMMtube	muscle
28	chr6:30180200-30182800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:30180400-30182400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr6:30180400-30182400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:30180400-30182400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:30180400-30182400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr6:30180400-30182400	Active TSS	Brain Cingulate Gyrus	brain
34	chr6:30180400-30182400	Active TSS	Duodenum Mucosa	Duodenum
35	chr6:30180400-30182400	Active TSS	Left Ventricle	heart
36	chr6:30180400-30182400	Active TSS	Ovary	ovary
37	chr6:30180400-30182400	Active TSS	Placenta Amnion	Placenta Amnion
38	chr6:30180400-30182400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr6:30180400-30182600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:30180400-30182600	Active TSS	Brain Angular Gyrus	brain
41	chr6:30180400-30182600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr6:30180400-30182600	Active TSS	Small Intestine	intestine
43	chr6:30180400-30182800	Active TSS	HSMM	muscle
44	chr6:30180600-30182400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:30180600-30182400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:30180600-30182400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:30180600-30182400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:30180600-30182400	Active TSS	Fetal Kidney	kidney
49	chr6:30180600-30182600	Active TSS	Pancreas	Pancrea
50	chr6:30180600-30182800	Active TSS	HUES64 Cell Line	embryonic stem cell

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