Variant report

Variant	rs528110679
Chromosome Location	chr6:150184218-150184219
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	chr6:150184170-150184598	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:150181876-150186422	IMR90	lung:	n/a	n/a
3	SMC3	chr6:150184169-150186458	Hela-S3	cervix:	n/a	chr6:150185239-150185249
4	RAD21	chr6:150183910-150186688	SK-N-SH	brain:	n/a	chr6:150184360-150184374 chr6:150185705-150185718 chr6:150185250-150185264
5	CEBPB	chr6:150184008-150185779	Hela-S3	cervix:	n/a	chr6:150184098-150184115
6	STAT3	chr6:150184070-150184539	MCF10A-Er-Src	breast:	n/a	chr6:150184284-150184291 chr6:150184284-150184298
7	POLR2A	chr6:150183914-150185821	MCF10A-Er-Src	breast:	n/a	n/a
8	TCF7L2	chr6:150183911-150185124	Hela-S3	cervix:	n/a	n/a
9	BACH1	chr6:150184213-150184496	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr6:150184113-150186548	HCT-116	colon:	n/a	chr6:150185270-150185280
11	MYC	chr6:150184183-150185666	NB4	blood:	n/a	chr6:150185270-150185280
12	RCOR1	chr6:150184136-150184669	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr6:150183904-150186614	SK-N-SH	brain:	n/a	n/a
14	CHD1	chr6:150181747-150185902	IMR90	lung:	n/a	chr6:150185305-150185315
15	NFIC	chr6:150184125-150185763	ECC-1	luminal epithelium:	n/a	n/a
16	NFIC	chr6:150184086-150184804	SK-N-SH	brain:	n/a	n/a
17	MAX	chr6:150184053-150185754	Hela-S3	cervix:	n/a	chr6:150185270-150185280
18	MXI1	chr6:150184000-150186450	IMR90	lung:	n/a	n/a
19	POLR2A	chr6:150184197-150184689	U87	brain:	n/a	n/a
20	TCF12	chr6:150184185-150185828	ECC-1	luminal epithelium:	n/a	chr6:150185477-150185484
21	SPI1	chr6:150184164-150184609	HL-60	blood:	n/a	chr6:150184386-150184393 chr6:150184385-150184394
22	TEAD4	chr6:150184160-150184734	ECC-1	luminal epithelium:	n/a	n/a
23	SIN3AK20	chr6:150184204-150184720	SK-N-SH	brain:	n/a	n/a
24	STAT3	chr6:150184015-150184526	MCF10A-Er-Src	breast:	n/a	chr6:150184284-150184291 chr6:150184284-150184298
25	EP300	chr6:150184150-150184504	HepG2	liver:	n/a	chr6:150184350-150184359
26	MXI1	chr6:150184186-150185709	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:150184198-150185941	Hela-S3	cervix:	n/a	n/a
28	TCF7L2	chr6:150184109-150184360	PANC-1	pancreas:	n/a	n/a
29	MYC	chr6:150184127-150184664	MCF10A-Er-Src	breast:	n/a	n/a
30	MAX	chr6:150184054-150186471	A549	lung:	n/a	chr6:150185270-150185280
31	NFIC	chr6:150184091-150184831	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr6:150181811-150186475	MCF10A-Er-Src	breast:	n/a	n/a
33	REST	chr6:150184153-150185839	HL-60	blood:	n/a	chr6:150185423-150185436 chr6:150185591-150185604 chr6:150185692-150185705
34	FOS	chr6:150184160-150184537	MCF10A-Er-Src	breast:	n/a	chr6:150184355-150184364
35	HA-E2F1	chr6:150184075-150185803	MCF-7	breast:	n/a	chr6:150185587-150185597 chr6:150184350-150184359
36	EP300	chr6:150184211-150184614	T-47D	breast:	n/a	chr6:150184350-150184359
37	POLR2A	chr6:150184016-150185945	Hela-S3	cervix:	n/a	n/a
38	SIN3A	chr6:150184098-150186440	H1-hESC	embryonic stem cell:	n/a	chr6:150185472-150185481
39	CREB1	chr6:150184102-150186511	HepG2	liver:	n/a	n/a
40	MAZ	chr6:150183983-150186584	IMR90	lung:	n/a	chr6:150185270-150185280
41	CTCF	chr6:150184074-150186891	SK-N-SH	brain:	n/a	chr6:150185422-150185435
42	FOS	chr6:150184112-150184409	MCF10A-Er-Src	breast:	n/a	chr6:150184355-150184364
43	SMC3	chr6:150183916-150186608	SK-N-SH	brain:	n/a	chr6:150185239-150185249
44	RFX5	chr6:150184179-150184714	Hela-S3	cervix:	n/a	n/a
45	UBTF	chr6:150184151-150185624	K562	blood:	n/a	n/a
46	TFAP2C	chr6:150184190-150185812	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr6:150184131-150185946	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr6:150184209-150184319	HUVEC	blood vessel:	n/a	n/a
49	TBP	chr6:150184198-150184649	Hela-S3	cervix:	n/a	n/a
50	REST	chr6:150183977-150186692	H1-neurons	neurons:	n/a	chr6:150185423-150185436 chr6:150185591-150185604 chr6:150185692-150185705

No.	Distal block	Cell Line	Cell type
1	chr6:150156036..150158963-chr6:150184147..150187311,3	MCF-7	breast:
2	chr6:150183161..150188305-chr6:150206346..150214162,9	MCF-7	breast:
3	chr6:150037075..150038991-chr6:150181496..150184249,2	K562	blood:
4	chr6:150067770..150069561-chr6:150184088..150185718,2	MCF-7	breast:
5	chr6:150181490..150187274-chr6:150243970..150248410,8	MCF-7	breast:
6	chr6:150183832..150186232-chr6:150215270..150224001,9	MCF-7	breast:
7	chr6:150036146..150038991-chr6:150182749..150185016,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAET1E-2	chr6:150184027-150184273	expReg_chr6_11262_-

Variant related genes	Relation type
ENSG00000268592	TF binding region
ENSG00000131023	Chromatin interaction
ENSG00000164520	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000120253	Chromatin interaction
ENSG00000203722	Chromatin interaction
ENSG00000223701	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3437961	chr6:150182459-150187257	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv823860	chr6:150183482-150186226	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr6:150182000-150186200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:150183400-150184400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr6:150183400-150184400	Flanking Active TSS	HUVEC	blood vessel
4	chr6:150183600-150184400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:150183600-150184400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:150183600-150184400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:150183600-150185400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:150183600-150185600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:150183600-150185800	Active TSS	HSMMtube	muscle
10	chr6:150183600-150186000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:150183600-150186000	Active TSS	Duodenum Mucosa	Duodenum
12	chr6:150183600-150186000	Active TSS	Rectal Smooth Muscle	rectum
13	chr6:150183600-150186200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:150183600-150186200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:150183600-150186200	Active TSS	Brain Anterior Caudate	brain
16	chr6:150183600-150186200	Active TSS	NHLF	lung
17	chr6:150183600-150186400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:150183600-150186400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:150183600-150186400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:150183600-150186400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr6:150183600-150186400	Active TSS	A549	lung
22	chr6:150183600-150186600	Active TSS	Brain Angular Gyrus	brain
23	chr6:150183800-150184400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr6:150183800-150184400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr6:150183800-150184400	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr6:150183800-150184400	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr6:150183800-150184400	Flanking Active TSS	Placenta	Placenta
28	chr6:150183800-150184600	Flanking Active TSS	Fetal Muscle Trunk	muscle
29	chr6:150183800-150185200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:150183800-150185600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:150183800-150185600	Active TSS	Pancreas	Pancrea
32	chr6:150183800-150185600	Active TSS	Stomach Smooth Muscle	stomach
33	chr6:150183800-150185600	Active TSS	HMEC	breast
34	chr6:150183800-150185600	Active TSS	NHEK	skin
35	chr6:150183800-150185800	Active TSS	HepG2	liver
36	chr6:150183800-150185800	Active TSS	NHDF-Ad	bronchial
37	chr6:150183800-150186000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:150183800-150186000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr6:150183800-150186000	Active TSS	Colon Smooth Muscle	Colon
40	chr6:150183800-150186000	Active TSS	Esophagus	oesophagus
41	chr6:150183800-150186000	Active TSS	Hela-S3	cervix
42	chr6:150183800-150186000	Active TSS	HSMM	muscle
43	chr6:150183800-150186200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:150183800-150186200	Active TSS	Right Ventricle	heart
45	chr6:150183800-150186400	Active TSS	Osteobl	bone
46	chr6:150183800-150186600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:150184000-150184400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:150184000-150184400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr6:150184000-150184400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr6:150184000-150184400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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