Variant report

Variant	rs6934771
Chromosome Location	chr6:28891856-28891857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:442)
CpG islands
(count:122)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:28891421-28892016	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr6:28890685-28892073	GM12878	blood:	n/a	n/a
3	SP4	chr6:28891526-28891923	H1-hESC	embryonic stem cell:	n/a	chr6:28891797-28891813
4	SP1	chr6:28891404-28892044	A549	lung:	n/a	chr6:28891799-28891811 chr6:28891800-28891810 chr6:28891800-28891810 chr6:28891801-28891810 chr6:28891800-28891809 chr6:28891801-28891810 chr6:28891799-28891811 chr6:28891765-28891775
5	HA-E2F1	chr6:28890604-28892095	MCF-7	breast:	n/a	chr6:28891750-28891760 chr6:28890907-28890921 chr6:28891800-28891809 chr6:28890959-28890971
6	EP300	chr6:28891551-28891935	HepG2	liver:	n/a	chr6:28891792-28891808 chr6:28891791-28891807
7	POLR2A	chr6:28890484-28892149	ECC-1	luminal epithelium:	n/a	n/a
8	NR2F2	chr6:28889743-28892578	K562	blood:	n/a	n/a
9	FOS	chr6:28891759-28891906	MCF10A-Er-Src	breast:	n/a	n/a
10	SIN3AK20	chr6:28891094-28892102	HepG2	liver:	n/a	n/a
11	MYBL2	chr6:28890481-28892204	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:28889875-28892268	HUVEC	blood vessel:	n/a	n/a
13	WRNIP1	chr6:28891657-28891929	GM12878	blood:	n/a	n/a
14	CHD2	chr6:28891467-28891963	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:28890358-28892615	K562	blood:	n/a	n/a
16	SMARCC1	chr6:28890501-28892027	Hela-S3	cervix:	n/a	n/a
17	MYBL2	chr6:28891341-28892145	HepG2	liver:	n/a	n/a
18	HCFC1	chr6:28890274-28892322	Hela-S3	cervix:	n/a	n/a
19	E2F4	chr6:28891584-28891960	MCF10A-Er-Src	breast:	n/a	chr6:28891750-28891760 chr6:28891800-28891809
20	TAF7	chr6:28891275-28892081	H1-hESC	embryonic stem cell:	n/a	n/a
21	GABPA	chr6:28890768-28892170	K562	blood:	n/a	chr6:28891800-28891809
22	GABPA	chr6:28891333-28892089	SK-N-SH	brain:	n/a	chr6:28891800-28891809
23	POLR2A	chr6:28891257-28892121	SK-N-MC	brain:	n/a	n/a
24	SP1	chr6:28891467-28892044	A549	lung:	n/a	chr6:28891799-28891811 chr6:28891800-28891810 chr6:28891800-28891810 chr6:28891801-28891810 chr6:28891800-28891809 chr6:28891801-28891810 chr6:28891799-28891811 chr6:28891765-28891775
25	TBL1XR1	chr6:28891453-28891978	K562	blood:	n/a	n/a
26	POLR2A	chr6:28890690-28892256	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:28890756-28892067	A549	lung:	n/a	n/a
28	TAF1	chr6:28891591-28891923	GM12892	blood:	n/a	n/a
29	FOXM1	chr6:28891451-28892007	GM12878	blood:	n/a	n/a
30	GABPA	chr6:28891558-28891992	GM12878	blood:	n/a	chr6:28891800-28891809
31	HNF4A	chr6:28891526-28891860	HepG2	liver:	n/a	chr6:28891683-28891698
32	POLR2A	chr6:28890378-28892039	GM12891	blood:	n/a	n/a
33	BHLHE40	chr6:28890684-28892055	GM12878	blood:	n/a	chr6:28891990-28892006 chr6:28891987-28892003
34	MYC	chr6:28890871-28891928	MCF-7	breast:	n/a	n/a
35	PML	chr6:28889740-28892185	K562	blood:	n/a	chr6:28890027-28890036
36	CREB1	chr6:28891290-28892125	GM12878	blood:	n/a	n/a
37	BACH1	chr6:28891614-28891923	H1-hESC	embryonic stem cell:	n/a	n/a
38	MXI1	chr6:28889872-28892194	IMR90	lung:	n/a	n/a
39	POLR2A	chr6:28889681-28892110	K562	blood:	n/a	n/a
40	MYC	chr6:28890853-28892001	MCF-7	breast:	n/a	n/a
41	POLR2A	chr6:28889280-28892096	K562	blood:	n/a	n/a
42	ZNF143	chr6:28890813-28892004	GM12878	blood:	n/a	n/a
43	NFIC	chr6:28891266-28892189	GM12878	blood:	n/a	n/a
44	SMC3	chr6:28891536-28891956	K562	blood:	n/a	n/a
45	BCL3	chr6:28891490-28891934	A549	lung:	n/a	n/a
46	TAL1	chr6:28890861-28891922	K562	blood:	n/a	n/a
47	POLR2A	chr6:28890796-28892070	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr6:28890925-28892103	HEK293	kidney:	n/a	n/a
49	ZNF263	chr6:28889915-28892045	HEK293-T-REx	kidney:	n/a	n/a
50	MAX	chr6:28890653-28892072	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:28891819-28891869	AG09319	gingival:	n/a
2	chr6:28891843-28891893	AG10803	skin:	n/a
3	chr6:28891843-28891893	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:28891819-28891869	GM12891	blood:	n/a
5	chr6:28891843-28891893	SKMC	muscle:	n/a
6	chr6:28891843-28891893	NH-A	brain:	n/a
7	chr6:28891843-28891893	T-47D	breast:	n/a
8	chr6:28891819-28891869	HMEC	breast:	n/a
9	chr6:28891819-28891869	NT2-D1	testis:	n/a
10	chr6:28891843-28891893	RPTEC	kidney:	n/a
11	chr6:28891819-28891869	HepG2	liver:	n/a
12	chr6:28891819-28891869	GM12878	blood:	n/a
13	chr6:28891819-28891869	H1-hESC	embryonic stem cell:	embryo
14	chr6:28891843-28891893	NB4	blood:	n/a
15	chr6:28891819-28891869	HRE	kidney:	n/a
16	chr6:28891843-28891893	SK-N-SH	brain:	n/a
17	chr6:28891843-28891893	A549	lung:	n/a
18	chr6:28891819-28891869	K562	blood:	n/a
19	chr6:28891843-28891893	ovcar-3	ovarian:	n/a
20	chr6:28891819-28891869	ProgFib	skin:	n/a
21	chr6:28891819-28891869	AG04449	skin:	fetal
22	chr6:28891843-28891893	ECC-1	luminal epithelium:	n/a
23	chr6:28891819-28891869	MCF10A-Er-Src	breast:	n/a
24	chr6:28891843-28891893	NHDF-neo	bronchial:	n/a
25	chr6:28891843-28891893	AG09309	skin:	n/a
26	chr6:28891843-28891893	PrEC	prostate:	n/a
27	chr6:28891843-28891893	HCF	heart:	n/a
28	chr6:28891843-28891893	HEK293	kidney:	embryo
29	chr6:28891843-28891893	K562	blood:	n/a
30	chr6:28891819-28891869	HCF	heart:	n/a
31	chr6:28891843-28891893	HEEpiC	esophagus:	n/a
32	chr6:28891819-28891869	HIPEpiC	eye:	n/a
33	chr6:28891819-28891869	AoSMC	blood vessel:	n/a
34	chr6:28891819-28891869	MCF-7	breast:	n/a
35	chr6:28891819-28891869	GM12892	blood:	n/a
36	chr6:28891819-28891869	SAEC	small airway:	n/a
37	chr6:28891819-28891869	LNCaP	prostate:	n/a
38	chr6:28891843-28891893	AoSMC	blood vessel:	n/a
39	chr6:28891819-28891869	HCT-116	colon:	n/a
40	chr6:28891843-28891893	AG04450	lung:	fetal
41	chr6:28891843-28891893	AG09319	gingival:	n/a
42	chr6:28891819-28891869	PFSK-1	brain:	n/a
43	chr6:28891819-28891869	GM19239	blood:	n/a
44	chr6:28891819-28891869	AG10803	skin:	n/a
45	chr6:28891843-28891893	SK-N-SH_RA	brain:	n/a
46	chr6:28891843-28891893	PFSK-1	brain:	n/a
47	chr6:28891819-28891869	RPTEC	kidney:	n/a
48	chr6:28891819-28891869	HRPEpiC	eye:	n/a
49	chr6:28891843-28891893	HCM	heart:	n/a
50	chr6:28891843-28891893	GM06990	blood:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28887886..28894013-chr6:28935014..28940220,8	K562	blood:
2	chr6:28831130..28836886-chr6:28890033..28892870,9	MCF-7	breast:
3	chr6:28889368..28892748-chr6:28952347..28956108,5	MCF-7	breast:
4	chr6:28861677..28871493-chr6:28888734..28892704,20	MCF-7	breast:
5	chr6:28890449..28893259-chr6:28971754..28975345,6	K562	blood:
6	chr1:198126086..198126981-chr6:28891160..28891856,2	Hela-S3	cervix:
7	chr1:91486430..91487378-chr6:28891311..28892063,2	Hela-S3	cervix:
8	chr12:52416585..52417406-chr6:28891561..28892115,2	HCT-116	colon:
9	chr6:28889372..28892274-chr6:28936954..28941148,4	K562	blood:
10	chr6:28890727..28894097-chr6:28943047..28947323,5	MCF-7	breast:
11	chr6:28831640..28835125-chr6:28890004..28893108,3	MCF-7	breast:
12	chr6:28874958..28881784-chr6:28883001..28892669,21	MCF-7	breast:
13	chr6:28882946..28884920-chr6:28890308..28891920,2	MCF-7	breast:
14	chr6:28861810..28871966-chr6:28889574..28894668,20	MCF-7	breast:
15	chr6:28888957..28894217-chr6:28902105..28913114,27	MCF-7	breast:
16	chr6:28805285..28808440-chr6:28888511..28892745,5	K562	blood:
17	chr6:28886838..28893375-chr6:28904762..28912890,19	K562	blood:
18	chr1:115300126..115300808-chr6:28891450..28892062,2	Hela-S3	cervix:
19	chr6:27856359..27859269-chr6:28891133..28894008,2	MCF-7	breast:
20	chr6:27776463..27779000-chr6:28890031..28892525,2	MCF-7	breast:
21	chr6:28891456..28893478-chr6:28954362..28956726,2	K562	blood:
22	chr4:1242022..1242890-chr6:28891676..28892308,2	NB4	blood:
23	chr6:28890160..28893119-chr6:28970726..28976038,6	K562	blood:
24	chr16:576951..577753-chr6:28891503..28892179,2	Hela-S3	cervix:
25	chr6:28805285..28809041-chr6:28890242..28892830,8	K562	blood:
26	chr6:28831633..28833233-chr6:28890419..28893119,2	K562	blood:
27	chr6:28856776..28858832-chr6:28890243..28892379,2	MCF-7	breast:
28	chr17:19551796..19552380-chr6:28891386..28892119,2	HCT-116	colon:
29	chr6:28804571..28808832-chr6:28889803..28892525,4	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM27	TF binding region
TRIM27	CpG island
ENSG00000204713	Chromatin interaction
ENSG00000151414	Chromatin interaction
ENSG00000103326	Chromatin interaction
ENSG00000225595	Chromatin interaction
ENSG00000159692	Chromatin interaction
ENSG00000244349	Chromatin interaction
ENSG00000224157	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000227214	Chromatin interaction
ENSG00000072210	Chromatin interaction
ENSG00000122482	Chromatin interaction
ENSG00000212240	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000225173	Chromatin interaction
ENSG00000233366	Chromatin interaction
ENSG00000204709	Chromatin interaction
ENSG00000228666	Chromatin interaction
ENSG00000263426	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000197935	Chromatin interaction
ENSG00000197153	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10428805	1.00[EUR][1000 genomes]
rs12110866	1.00[EUR][1000 genomes]
rs58377234	1.00[EUR][1000 genomes]
rs6456858	1.00[EUR][1000 genomes]
rs6917227	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6924101	0.86[EUR][1000 genomes]
rs6925173	1.00[EUR][1000 genomes]
rs6931486	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6939310	0.86[EUR][1000 genomes]
rs73407222	0.86[EUR][1000 genomes]
rs73407231	1.00[EUR][1000 genomes]
rs73407237	1.00[EUR][1000 genomes]
rs73407240	1.00[EUR][1000 genomes]
rs73407247	1.00[EUR][1000 genomes]
rs73407261	1.00[EUR][1000 genomes]
rs73408940	1.00[EUR][1000 genomes]
rs7775657	1.00[EUR][1000 genomes]
rs9767253	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
3	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv601212	chr6:28833225-28893927	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv462667	chr6:28834646-28893927	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv830622	chr6:28861667-29015804	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 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	chr6:28889800-28892400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:28889800-28892600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:28890000-28892200	Active TSS	Aorta	Aorta
4	chr6:28890000-28892200	Active TSS	Fetal Intestine Small	intestine
5	chr6:28890000-28892400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:28890000-28892400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:28890000-28892400	Active TSS	Colonic Mucosa	Colon
8	chr6:28890000-28892400	Active TSS	Fetal Intestine Large	intestine
9	chr6:28890000-28892600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:28890000-28892600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:28890000-28892600	Active TSS	Lung	lung
12	chr6:28890000-28892600	Active TSS	Pancreas	Pancrea
13	chr6:28890000-28892600	Active TSS	Psoas Muscle	Psoas
14	chr6:28890000-28892800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:28890000-28892800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:28890200-28892000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr6:28890200-28892000	Active TSS	Fetal Muscle Trunk	muscle
18	chr6:28890200-28892000	Active TSS	Stomach Mucosa	stomach
19	chr6:28890200-28892200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:28890200-28892200	Active TSS	Ovary	ovary
21	chr6:28890200-28892200	Active TSS	NHDF-Ad	bronchial
22	chr6:28890200-28892400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:28890200-28892400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:28890200-28892400	Active TSS	GM12878-XiMat	blood
25	chr6:28890200-28892400	Active TSS	NHLF	lung
26	chr6:28890200-28892600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:28890200-28892600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:28890200-28892600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:28890200-28892600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:28890200-28892600	Active TSS	A549	lung
31	chr6:28890200-28892800	Active TSS	HSMMtube	muscle
32	chr6:28890200-28893000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr6:28890400-28892200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:28890400-28892200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:28890400-28892200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:28890400-28892200	Active TSS	Gastric	stomach
37	chr6:28890400-28892200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr6:28890400-28892200	Active TSS	Small Intestine	intestine
39	chr6:28890400-28892200	Active TSS	Thymus	Thymus
40	chr6:28890400-28892400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:28890400-28892400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:28890400-28892400	Active TSS	Fetal Stomach	stomach
43	chr6:28890400-28892400	Active TSS	Right Ventricle	heart
44	chr6:28890400-28892400	Active TSS	Osteobl	bone
45	chr6:28890400-28892600	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:28890400-28892600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:28890400-28892600	Active TSS	Left Ventricle	heart
48	chr6:28890400-28892600	Active TSS	NHEK	skin
49	chr6:28890400-28892800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:28890400-28892800	Active TSS	Brain Cingulate Gyrus	brain

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