Variant report

Variant	rs139821496
Chromosome Location	chr6:150185216-150185217
allele	-/CGCGGG
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	REST	chr6:150185202-150185722	PANC-1	pancreas:	n/a	chr6:150185423-150185436 chr6:150185591-150185604 chr6:150185692-150185705
2	KAP1	chr6:150184885-150185460	HEK293	kidney:	n/a	n/a
3	USF1	chr6:150184917-150185223	SK-N-SH_RA	brain:	n/a	n/a
4	MAX	chr6:150184235-150186075	MCF-7	breast:	n/a	chr6:150185270-150185280
5	MYC	chr6:150185068-150185405	H1-hESC	embryonic stem cell:	n/a	chr6:150185270-150185280
6	POLR2A	chr6:150181876-150186422	IMR90	lung:	n/a	n/a
7	SMC3	chr6:150184169-150186458	Hela-S3	cervix:	n/a	chr6:150185239-150185249
8	POLR2A	chr6:150184954-150185856	HepG2	liver:	n/a	n/a
9	YY1	chr6:150184391-150185682	K562	blood:	n/a	chr6:150185358-150185372 chr6:150185246-150185257 chr6:150185250-150185264 chr6:150185496-150185505 chr6:150185321-150185335
10	CREB1	chr6:150184810-150185950	A549	lung:	n/a	n/a
11	RAD21	chr6:150183910-150186688	SK-N-SH	brain:	n/a	chr6:150184360-150184374 chr6:150185705-150185718 chr6:150185250-150185264
12	CEBPB	chr6:150184008-150185779	Hela-S3	cervix:	n/a	chr6:150184098-150184115
13	REST	chr6:150184760-150185687	GM12878	blood:	n/a	chr6:150185423-150185436 chr6:150185591-150185604
14	MAX	chr6:150184393-150185665	NB4	blood:	n/a	chr6:150185270-150185280
15	CREB1	chr6:150184813-150186117	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:150184486-150185834	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:150183914-150185821	MCF10A-Er-Src	breast:	n/a	n/a
18	CREB1	chr6:150184887-150186443	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr6:150184940-150185558	SK-N-SH_RA	brain:	n/a	chr6:150185358-150185372 chr6:150185246-150185257 chr6:150185250-150185264 chr6:150185496-150185505 chr6:150185321-150185335
20	REST	chr6:150184740-150185751	HL-60	blood:	n/a	chr6:150185423-150185436 chr6:150185591-150185604 chr6:150185692-150185705
21	POLR2A	chr6:150184449-150185949	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr6:150184446-150185820	HepG2	liver:	n/a	n/a
23	CTCF	chr6:150184900-150185384	K562	blood:	n/a	n/a
24	POLR2A	chr6:150185004-150185755	HepG2	liver:	n/a	n/a
25	TEAD4	chr6:150185144-150185739	A549	lung:	n/a	n/a
26	POLR2A	chr6:150184844-150185763	PFSK-1	brain:	n/a	n/a
27	REST	chr6:150184874-150185912	PANC-1	pancreas:	n/a	chr6:150185423-150185436 chr6:150185591-150185604 chr6:150185692-150185705
28	HA-E2F1	chr6:150184289-150185593	Hela-S3	cervix:	n/a	chr6:150184350-150184359
29	POLR2A	chr6:150184846-150185912	A549	lung:	n/a	n/a
30	MAX	chr6:150184113-150186548	HCT-116	colon:	n/a	chr6:150185270-150185280
31	TBP	chr6:150184918-150186242	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:150184868-150185769	HepG2	liver:	n/a	n/a
33	CHD1	chr6:150185016-150185767	H1-hESC	embryonic stem cell:	n/a	chr6:150185305-150185315
34	POLR2A	chr6:150184355-150185795	Gliobla	brain:	n/a	n/a
35	POLR2A	chr6:150184356-150185941	MCF-7	breast:	n/a	n/a
36	MAX	chr6:150184437-150185836	HepG2	liver:	n/a	chr6:150185270-150185280
37	MYC	chr6:150184183-150185666	NB4	blood:	n/a	chr6:150185270-150185280
38	POLR2A	chr6:150184861-150185754	Hela-S3	cervix:	n/a	n/a
39	YY1	chr6:150184284-150185922	HepG2	liver:	n/a	chr6:150185358-150185372 chr6:150185246-150185257 chr6:150185250-150185264 chr6:150185496-150185505 chr6:150185321-150185335
40	HEY1	chr6:150184869-150185903	HepG2	liver:	n/a	chr6:150185245-150185260 chr6:150185627-150185642 chr6:150185432-150185447 chr6:150185248-150185263
41	ZBTB7A	chr6:150184989-150185872	K562	blood:	n/a	n/a
42	RAD21	chr6:150184847-150186654	HCT-116	colon:	n/a	chr6:150185705-150185718 chr6:150185250-150185264
43	EBF1	chr6:150185211-150185553	GM12878	blood:	n/a	n/a
44	PAX5	chr6:150184873-150185656	GM12892	blood:	n/a	chr6:150185248-150185257
45	POLR2A	chr6:150184803-150185877	PANC-1	pancreas:	n/a	n/a
46	YY1	chr6:150184408-150185532	H1-hESC	embryonic stem cell:	n/a	chr6:150185358-150185372 chr6:150185246-150185257 chr6:150185250-150185264 chr6:150185496-150185505 chr6:150185321-150185335
47	REST	chr6:150185166-150185754	A549	lung:	n/a	chr6:150185423-150185436 chr6:150185591-150185604 chr6:150185692-150185705
48	REST	chr6:150184843-150185680	K562	blood:	n/a	chr6:150185423-150185436 chr6:150185591-150185604
49	MXI1	chr6:150183904-150186614	SK-N-SH	brain:	n/a	n/a
50	E2F4	chr6:150184921-150185751	MCF10A-Er-Src	breast:	n/a	chr6:150185196-150185207 chr6:150185587-150185597

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:150185198-150185248	GM12891	blood:	n/a
2	chr6:150185198-150185248	AG09319	gingival:	n/a
3	chr6:150185198-150185248	RPTEC	kidney:	n/a
4	chr6:150185198-150185248	SAEC	small airway:	n/a
5	chr6:150185198-150185248	NHDF-neo	bronchial:	n/a
6	chr6:150185198-150185248	K562	blood:	n/a
7	chr6:150185198-150185248	Caco-2	colon:	n/a
8	chr6:150185198-150185248	SK-N-SH_RA	brain:	n/a
9	chr6:150185198-150185248	ProgFib	skin:	n/a
10	chr6:150185198-150185248	HCF	heart:	n/a
11	chr6:150185198-150185248	AG04449	skin:	fetal
12	chr6:150185198-150185248	AG04450	lung:	fetal
13	chr6:150185198-150185248	HCT-116	colon:	n/a
14	chr6:150185198-150185248	HCPEpiC	choroid plexus:	n/a
15	chr6:150185198-150185248	U87	brain:	n/a
16	chr6:150185198-150185248	SKMC	muscle:	n/a
17	chr6:150185198-150185248	GM06990	blood:	n/a
18	chr6:150185198-150185248	PrEC	prostate:	n/a
19	chr6:150185198-150185248	NT2-D1	testis:	n/a
20	chr6:150185198-150185248	Hepatocyte	liver:	n/a
21	chr6:150185198-150185248	HPAEpiC	pulmonary alveolar:	n/a
22	chr6:150185198-150185248	HCM	heart:	n/a
23	chr6:150185198-150185248	HMEC	breast:	n/a
24	chr6:150185198-150185248	BJ	skin:	n/a
25	chr6:150185198-150185248	SK-N-SH	brain:	n/a
26	chr6:150185198-150185248	HRE	kidney:	n/a
27	chr6:150185198-150185248	ECC-1	luminal epithelium:	n/a
28	chr6:150185198-150185248	PFSK-1	brain:	n/a
29	chr6:150185198-150185248	BE2_C	brain:	n/a
30	chr6:150185198-150185248	T-47D	breast:	n/a
31	chr6:150185198-150185248	CMK	blood:	n/a
32	chr6:150185198-150185248	SK-N-MC	brain:	n/a
33	chr6:150185198-150185248	HepG2	liver:	n/a
34	chr6:150185198-150185248	HRCEpiC	kidney:	n/a
35	chr6:150185198-150185248	HUVEC	blood vessel:	n/a
36	chr6:150185198-150185248	HIPEpiC	eye:	n/a
37	chr6:150185198-150185248	AG10803	skin:	n/a
38	chr6:150185198-150185248	Jurkat	blood:	n/a
39	chr6:150185198-150185248	IMR90	lung:	fetal
40	chr6:150185198-150185248	HAEpiC	amniotic membrane:	n/a
41	chr6:150185198-150185248	H1-hESC	embryonic stem cell:	embryo
42	chr6:150185198-150185248	GM12878	blood:	n/a
43	chr6:150185198-150185248	HNPCEpiC	eye:	n/a
44	chr6:150185198-150185248	HEK293	kidney:	embryo
45	chr6:150185198-150185248	PANC-1	pancreas:	n/a
46	chr6:150185198-150185248	Hela-S3	cervix:	n/a
47	chr6:150185198-150185248	NHBE	bronchial:	n/a
48	chr6:150185198-150185248	AG09309	skin:	n/a
49	chr6:150185198-150185248	HRPEpiC	eye:	n/a
50	chr6:150185198-150185248	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:150065257..150067789-chr6:150184620..150186500,2	K562	blood:
2	chr6:150156036..150158963-chr6:150184147..150187311,3	MCF-7	breast:
3	chr6:150183161..150188305-chr6:150206346..150214162,9	MCF-7	breast:
4	chr6:150184661..150189239-chr6:150198084..150201371,4	MCF-7	breast:
5	chr6:150185187..150186828-chr6:150215109..150217579,2	MCF-7	breast:
6	chr12:7053047..7053870-chr6:150185072..150185791,2	Hela-S3	cervix:
7	chr6:149967481..149969834-chr6:150184237..150185789,2	K562	blood:
8	chr6:150067770..150069561-chr6:150184088..150185718,2	MCF-7	breast:
9	chr6:150181490..150187274-chr6:150243970..150248410,8	MCF-7	breast:
10	chr6:149865631..149868201-chr6:150184694..150186592,2	MCF-7	breast:
11	chr6:150183832..150186232-chr6:150215270..150224001,9	MCF-7	breast:

Variant related genes	Relation type
LRP11	TF binding region
LRP11	CpG island
ENSG00000217733	Chromatin interaction
ENSG00000203722	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000186625	Chromatin interaction
ENSG00000223701	Chromatin interaction
ENSG00000120253	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000164520	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000272173	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:126 , 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	chr6:150183600-150185400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:150183600-150185600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:150183600-150185800	Active TSS	HSMMtube	muscle
5	chr6:150183600-150186000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:150183600-150186000	Active TSS	Duodenum Mucosa	Duodenum
7	chr6:150183600-150186000	Active TSS	Rectal Smooth Muscle	rectum
8	chr6:150183600-150186200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:150183600-150186200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:150183600-150186200	Active TSS	Brain Anterior Caudate	brain
11	chr6:150183600-150186200	Active TSS	NHLF	lung
12	chr6:150183600-150186400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:150183600-150186400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:150183600-150186400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:150183600-150186400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:150183600-150186400	Active TSS	A549	lung
17	chr6:150183600-150186600	Active TSS	Brain Angular Gyrus	brain
18	chr6:150183800-150185600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:150183800-150185600	Active TSS	Pancreas	Pancrea
20	chr6:150183800-150185600	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:150183800-150185600	Active TSS	HMEC	breast
22	chr6:150183800-150185600	Active TSS	NHEK	skin
23	chr6:150183800-150185800	Active TSS	HepG2	liver
24	chr6:150183800-150185800	Active TSS	NHDF-Ad	bronchial
25	chr6:150183800-150186000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:150183800-150186000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr6:150183800-150186000	Active TSS	Colon Smooth Muscle	Colon
28	chr6:150183800-150186000	Active TSS	Esophagus	oesophagus
29	chr6:150183800-150186000	Active TSS	Hela-S3	cervix
30	chr6:150183800-150186000	Active TSS	HSMM	muscle
31	chr6:150183800-150186200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:150183800-150186200	Active TSS	Right Ventricle	heart
33	chr6:150183800-150186400	Active TSS	Osteobl	bone
34	chr6:150183800-150186600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:150184000-150185600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:150184000-150185600	Active TSS	Fetal Intestine Small	intestine
37	chr6:150184000-150185600	Active TSS	Lung	lung
38	chr6:150184000-150185600	Active TSS	Psoas Muscle	Psoas
39	chr6:150184000-150185600	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr6:150184000-150185800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr6:150184000-150186000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:150184000-150186200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr6:150184000-150186200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:150184000-150186200	Active TSS	Ovary	ovary
45	chr6:150184000-150186200	Active TSS	Right Atrium	heart
46	chr6:150184000-150186400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr6:150184200-150185600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:150184200-150185600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:150184200-150185600	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr6:150184200-150185600	Active TSS	Muscle Satellite Cultured Cells	--

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