Variant report

Variant	rs368046141
Chromosome Location	chr6:27775682-27775683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:350)
CpG islands
(count:61)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27774540-27777234	PANC-1	pancreas:	n/a	n/a
2	ELF1	chr6:27774770-27775784	K562	blood:	n/a	n/a
3	CREB1	chr6:27775586-27776076	GM12878	blood:	n/a	n/a
4	TCF12	chr6:27775486-27776082	A549	lung:	n/a	n/a
5	ETS1	chr6:27775247-27776094	K562	blood:	n/a	n/a
6	FOSL2	chr6:27775283-27776333	HepG2	liver:	n/a	chr6:27775775-27775784
7	POLR2A	chr6:27774760-27777233	Hela-S3	cervix:	n/a	n/a
8	TAF7	chr6:27774212-27776082	H1-hESC	embryonic stem cell:	n/a	n/a
9	GTF2F1	chr6:27775505-27776163	K562	blood:	n/a	n/a
10	POU2F2	chr6:27774658-27776961	GM12878	blood:	n/a	n/a
11	SP1	chr6:27775520-27776084	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr6:27775223-27776438	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:27774575-27779531	GM12891	blood:	n/a	n/a
14	CREB1	chr6:27775581-27776072	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF12	chr6:27775190-27776321	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:27774742-27776963	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr6:27775611-27775991	IMR90	lung:	n/a	chr6:27775815-27775826 chr6:27775881-27775889
18	TBP	chr6:27775531-27776136	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr6:27774756-27777061	SK-N-SH	brain:	n/a	n/a
20	REST	chr6:27775196-27775767	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr6:27774692-27777073	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:27774769-27775764	A549	lung:	n/a	n/a
23	RCOR1	chr6:27775521-27776125	K562	blood:	n/a	n/a
24	POLR2A	chr6:27774397-27776944	K562	blood:	n/a	n/a
25	MYC	chr6:27774708-27776113	NB4	blood:	n/a	n/a
26	CREB1	chr6:27775583-27776062	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:27775218-27776944	U87	brain:	n/a	n/a
28	POLR2A	chr6:27773932-27776060	K562	blood:	n/a	n/a
29	POLR2A	chr6:27774750-27776914	Raji	blood:	n/a	n/a
30	TAF1	chr6:27775510-27776003	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr6:27774382-27779662	K562	blood:	n/a	n/a
32	EP300	chr6:27775564-27775942	SK-N-SH_RA	brain:	n/a	n/a
33	HA-E2F1	chr6:27774879-27776430	MCF-7	breast:	n/a	chr6:27775901-27775912 chr6:27775901-27775908 chr6:27775901-27775908 chr6:27775896-27775911 chr6:27775901-27775908 chr6:27775900-27775909
34	POLR2A	chr6:27774757-27777348	Hela-S3	cervix:	n/a	n/a
35	E2F4	chr6:27775662-27776110	Hela-S3	cervix:	n/a	chr6:27775901-27775912 chr6:27775901-27775908 chr6:27775901-27775908 chr6:27775896-27775911 chr6:27775900-27775908 chr6:27775901-27775908 chr6:27775900-27775909
36	POLR2A	chr6:27774349-27776475	MCF-7	breast:	n/a	n/a
37	JUND	chr6:27775307-27776476	A549	lung:	n/a	chr6:27775775-27775784
38	POLR2A	chr6:27774870-27776987	HepG2	liver:	n/a	n/a
39	MYBL2	chr6:27774663-27777031	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:27774642-27777227	GM12892	blood:	n/a	n/a
41	MYC	chr6:27775605-27775988	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr6:27774553-27777195	GM15510	blood:	n/a	n/a
43	E2F4	chr6:27775669-27776117	GM12878	blood:	n/a	chr6:27775901-27775912 chr6:27775901-27775908 chr6:27775901-27775908 chr6:27775896-27775911 chr6:27775900-27775908 chr6:27775901-27775908 chr6:27775900-27775909
44	ATF2	chr6:27775590-27776074	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:27774376-27777210	GM12892	blood:	n/a	n/a
46	HEY1	chr6:27774566-27777492	HepG2	liver:	n/a	n/a
47	IRF4	chr6:27775226-27775806	GM12878	blood:	n/a	n/a
48	YY1	chr6:27775585-27775809	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:27775251-27775706	A549	lung:	n/a	n/a
50	SP4	chr6:27775513-27776074	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27775657-27775707	GM19239	blood:	n/a
2	chr6:27775657-27775707	NB4	blood:	n/a
3	chr6:27775657-27775707	PFSK-1	brain:	n/a
4	chr6:27775657-27775707	CMK	blood:	n/a
5	chr6:27775657-27775707	Hela-S3	cervix:	n/a
6	chr6:27775657-27775707	GM12878	blood:	n/a
7	chr6:27775657-27775707	HCPEpiC	choroid plexus:	n/a
8	chr6:27775657-27775707	HL-60	blood:	n/a
9	chr6:27775657-27775707	HCT-116	colon:	n/a
10	chr6:27775657-27775707	HNPCEpiC	eye:	n/a
11	chr6:27775657-27775707	LNCaP	prostate:	n/a
12	chr6:27775657-27775707	PrEC	prostate:	n/a
13	chr6:27775657-27775707	Caco-2	colon:	n/a
14	chr6:27775657-27775707	BE2_C	brain:	n/a
15	chr6:27775657-27775707	HCF	heart:	n/a
16	chr6:27775657-27775707	HUVEC	blood vessel:	n/a
17	chr6:27775657-27775707	GM12891	blood:	n/a
18	chr6:27775657-27775707	GM06990	blood:	n/a
19	chr6:27775657-27775707	HMEC	breast:	n/a
20	chr6:27775657-27775707	SK-N-MC	brain:	n/a
21	chr6:27775657-27775707	AG10803	skin:	n/a
22	chr6:27775657-27775707	U87	brain:	n/a
23	chr6:27775657-27775707	HAEpiC	amniotic membrane:	n/a
24	chr6:27775657-27775707	HPAEpiC	pulmonary alveolar:	n/a
25	chr6:27775657-27775707	HEK293	kidney:	embryo
26	chr6:27775657-27775707	ECC-1	luminal epithelium:	n/a
27	chr6:27775657-27775707	BJ	skin:	n/a
28	chr6:27775657-27775707	AG09309	skin:	n/a
29	chr6:27775657-27775707	HIPEpiC	eye:	n/a
30	chr6:27775657-27775707	ProgFib	skin:	n/a
31	chr6:27775657-27775707	HEEpiC	esophagus:	n/a
32	chr6:27775657-27775707	RPTEC	kidney:	n/a
33	chr6:27775657-27775707	IMR90	lung:	fetal
34	chr6:27775657-27775707	SAEC	small airway:	n/a
35	chr6:27775657-27775707	A549	lung:	n/a
36	chr6:27775657-27775707	HRCEpiC	kidney:	n/a
37	chr6:27775657-27775707	NH-A	brain:	n/a
38	chr6:27775657-27775707	ovcar-3	ovarian:	n/a
39	chr6:27775657-27775707	GM12892	blood:	n/a
40	chr6:27775657-27775707	Jurkat	blood:	n/a
41	chr6:27775657-27775707	NHDF-neo	bronchial:	n/a
42	chr6:27775657-27775707	MCF-7	breast:	n/a
43	chr6:27775657-27775707	SK-N-SH	brain:	n/a
44	chr6:27775657-27775707	PANC-1	pancreas:	n/a
45	chr6:27775657-27775707	AG04449	skin:	fetal
46	chr6:27775657-27775707	HRPEpiC	eye:	n/a
47	chr6:27775657-27775707	SKMC	muscle:	n/a
48	chr6:27775657-27775707	NT2-D1	testis:	n/a
49	chr6:27775657-27775707	AG04450	lung:	fetal
50	chr6:27775657-27775707	T-47D	breast:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:69978747..69979546-chr6:27775291..27775940,2	NB4	blood:
2	chr6:26203418..26208290-chr6:27773529..27778557,7	MCF-7	breast:
3	chr6:26121475..26124291-chr6:27775665..27777300,3	MCF-7	breast:
4	chr6:26055768..26057563-chr6:27773736..27776348,2	MCF-7	breast:
5	chr6:27620343..27622323-chr6:27775251..27777000,2	K562	blood:
6	chr6:26183066..26187877-chr6:27774821..27779151,5	MCF-7	breast:
7	chr6:27112242..27117659-chr6:27770082..27780470,17	MCF-7	breast:
8	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
9	chr6:26025755..26029009-chr6:27774713..27777489,4	MCF-7	breast:
10	chr6:26029311..26033760-chr6:27774369..27777821,5	MCF-7	breast:
11	chr6:26282374..26290542-chr6:27772727..27779446,9	MCF-7	breast:
12	chr12:122238688..122240991-chr6:27775066..27777926,2	MCF-7	breast:
13	chr6:27098259..27104331-chr6:27773668..27779939,16	MCF-7	breast:
14	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
15	chr4:74123460..74124971-chr6:27773658..27776230,2	MCF-7	breast:
16	chr6:26124249..26127079-chr6:27774998..27777814,2	MCF-7	breast:
17	chr6:26270357..26275628-chr6:27773210..27778290,5	MCF-7	breast:
18	chr6:26196862..26203126-chr6:27774221..27779033,8	MCF-7	breast:
19	chr6:27217680..27220381-chr6:27773874..27775997,2	K562	blood:
20	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
21	chr6:27100385..27101245-chr6:27775487..27776359,3	Hela-S3	cervix:
22	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:
23	chr6:27775597..27780846-chr6:28300467..28304976,7	K562	blood:
24	chr20:46253914..46256235-chr6:27775135..27778059,2	MCF-7	breast:
25	chr6:26216294..26218815-chr6:27772946..27775743,3	MCF-7	breast:
26	chr6:26030987..26033911-chr6:27775550..27778920,4	K562	blood:
27	chr6:26201617..26205446-chr6:27775076..27778001,4	K562	blood:
28	chr6:26158302..26159117-chr6:27775211..27776028,3	Hela-S3	cervix:
29	chr11:62608524..62609452-chr6:27775275..27775944,3	NB4	blood:
30	chr6:27774293..27778194-chr6:28301096..28304976,3	K562	blood:
31	chr6:26204792..26206368-chr6:27774871..27776678,2	MCF-7	breast:
32	chr6:27775362..27779371-chr6:28186093..28189957,4	K562	blood:
33	chr6:27111749..27120986-chr6:27774460..27781468,38	K562	blood:
34	chr6:27619629..27622323-chr6:27775500..27777172,2	K562	blood:
35	chr6:26197916..26207803-chr6:27772547..27779655,13	K562	blood:

No data

Variant related genes	Relation type
HIST1H3H	TF binding region
HIST1H2AI	TF binding region
HIST1H2AI	CpG island
HIST1H3H	CpG island
ENSG00000187837	Chromatin interaction
ENSG00000250220	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000197697	Chromatin interaction
ENSG00000216676	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000166226	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000124635	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
3	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
4	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
5	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv1017057	chr6:27745777-27789683	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	125 gene(s)	inside rSNPs	diseases
7	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
8	nsv969366	chr6:27775188-27776471	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	57 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27774200-27778000	Active TSS	K562	blood
2	chr6:27774200-27779200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:27774200-27779200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:27774200-27779400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:27774200-27779800	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:27774200-27779800	Active TSS	Thymus	Thymus
7	chr6:27774200-27779800	Active TSS	A549	lung
8	chr6:27774400-27776200	Active TSS	Rectal Smooth Muscle	rectum
9	chr6:27774400-27776400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:27774400-27776400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
11	chr6:27774400-27776400	Active TSS	Fetal Kidney	kidney
12	chr6:27774400-27776400	Active TSS	Fetal Lung	lung
13	chr6:27774400-27776400	Active TSS	NHLF	lung
14	chr6:27774400-27776800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:27774400-27776800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:27774400-27777000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:27774400-27777200	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:27774400-27778400	Active TSS	Brain Germinal Matrix	brain
19	chr6:27774400-27778400	Active TSS	Fetal Intestine Large	intestine
20	chr6:27774400-27778800	Active TSS	Fetal Brain Female	brain
21	chr6:27774400-27779000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:27774400-27779200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:27774400-27779200	Active TSS	NHDF-Ad	bronchial
24	chr6:27774400-27780000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr6:27774400-27780000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:27774400-27780000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:27774400-27780000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:27774400-27780200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr6:27774400-27784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr6:27774600-27775800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr6:27774600-27776400	Active TSS	Aorta	Aorta
32	chr6:27774600-27776400	Active TSS	HSMM	muscle
33	chr6:27774600-27776600	Active TSS	Placenta Amnion	Placenta Amnion
34	chr6:27774600-27779600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:27774800-27775800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
36	chr6:27774800-27776200	Active TSS	Ovary	ovary
37	chr6:27774800-27776400	Active TSS	Fetal Heart	heart
38	chr6:27774800-27776600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
39	chr6:27774800-27776600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:27774800-27776600	Active TSS	Fetal Brain Male	brain
41	chr6:27774800-27778400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr6:27774800-27778800	Active TSS	Fetal Intestine Small	intestine
43	chr6:27775000-27776000	Active TSS	Right Atrium	heart
44	chr6:27775000-27776200	Active TSS	Lung	lung
45	chr6:27775000-27776400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr6:27775000-27776400	Active TSS	Fetal Stomach	stomach
47	chr6:27775000-27776400	Active TSS	HSMMtube	muscle
48	chr6:27775000-27776600	Active TSS	Esophagus	oesophagus
49	chr6:27775000-27776600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
50	chr6:27775000-27776800	Active TSS	Small Intestine	intestine

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