Variant report

Variant	rs573134100
Chromosome Location	chr6:27775209-27775210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 50 per page) page: 1 2 3 4 5

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	POLR2A	chr6:27774760-27777233	Hela-S3	cervix:	n/a	n/a
4	TAF7	chr6:27774212-27776082	H1-hESC	embryonic stem cell:	n/a	n/a
5	POU2F2	chr6:27774658-27776961	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:27774575-27779531	GM12891	blood:	n/a	n/a
7	TCF12	chr6:27775190-27776321	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:27774742-27776963	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:27774756-27777061	SK-N-SH	brain:	n/a	n/a
10	REST	chr6:27775196-27775767	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPD	chr6:27774198-27775387	K562	blood:	n/a	chr6:27774827-27774838
12	TEAD4	chr6:27774692-27777073	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:27774769-27775764	A549	lung:	n/a	n/a
14	HNF4A	chr6:27774749-27775257	HepG2	liver:	n/a	chr6:27775200-27775215
15	POLR2A	chr6:27774397-27776944	K562	blood:	n/a	n/a
16	MYC	chr6:27774708-27776113	NB4	blood:	n/a	n/a
17	NR2F2	chr6:27774632-27775477	K562	blood:	n/a	n/a
18	POLR2A	chr6:27773932-27776060	K562	blood:	n/a	n/a
19	POLR2A	chr6:27774750-27776914	Raji	blood:	n/a	n/a
20	POLR2A	chr6:27774382-27779662	K562	blood:	n/a	n/a
21	MAX	chr6:27774721-27775508	K562	blood:	n/a	n/a
22	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
23	POLR2A	chr6:27774757-27777348	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:27774349-27776475	MCF-7	breast:	n/a	n/a
25	BCLAF1	chr6:27774813-27775532	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:27774870-27776987	HepG2	liver:	n/a	n/a
27	MYBL2	chr6:27774663-27777031	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:27774642-27777227	GM12892	blood:	n/a	n/a
29	POLR2A	chr6:27774553-27777195	GM15510	blood:	n/a	n/a
30	CEBPB	chr6:27774524-27775309	A549	lung:	n/a	n/a
31	USF2	chr6:27774834-27775546	K562	blood:	n/a	n/a
32	MAX	chr6:27774668-27775463	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:27774376-27777210	GM12892	blood:	n/a	n/a
34	HEY1	chr6:27774566-27777492	HepG2	liver:	n/a	n/a
35	MAX	chr6:27774838-27775638	A549	lung:	n/a	n/a
36	PAX5	chr6:27774758-27775695	GM12878	blood:	n/a	n/a
37	MYC	chr6:27774835-27776024	K562	blood:	n/a	n/a
38	EP300	chr6:27774639-27776110	A549	lung:	n/a	n/a
39	POLR2A	chr6:27774441-27779690	PBDE	blood:	n/a	n/a
40	SIN3AK20	chr6:27774670-27775338	MCF-7	breast:	n/a	n/a
41	POLR2A	chr6:27774834-27775243	HepG2	liver:	n/a	n/a
42	POLR2A	chr6:27774262-27776064	K562	blood:	n/a	n/a
43	POLR2A	chr6:27774826-27777084	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:27774823-27777024	GM10847	blood:	n/a	n/a
45	POLR2A	chr6:27774601-27777197	GM12892	blood:	n/a	n/a
46	MAX	chr6:27774354-27775791	K562	blood:	n/a	n/a
47	POLR2A	chr6:27774473-27776887	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:27774778-27779424	MCF10A-Er-Src	breast:	n/a	n/a
49	ZBTB33	chr6:27774691-27775278	A549	lung:	n/a	n/a
50	IRF1	chr6:27774348-27775243	K562	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26203418..26208290-chr6:27773529..27778557,7	MCF-7	breast:
2	chr6:26055768..26057563-chr6:27773736..27776348,2	MCF-7	breast:
3	chr6:27356362..27358956-chr6:27773296..27775539,3	K562	blood:
4	chr2:242640497..242642008-chr6:27772593..27775464,2	MCF-7	breast:
5	chr6:26183066..26187877-chr6:27774821..27779151,5	MCF-7	breast:
6	chr6:27112242..27117659-chr6:27770082..27780470,17	MCF-7	breast:
7	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
8	chr6:26025755..26029009-chr6:27774713..27777489,4	MCF-7	breast:
9	chr6:26029311..26033760-chr6:27774369..27777821,5	MCF-7	breast:
10	chr6:26282374..26290542-chr6:27772727..27779446,9	MCF-7	breast:
11	chr12:122238688..122240991-chr6:27775066..27777926,2	MCF-7	breast:
12	chr6:27098259..27104331-chr6:27773668..27779939,16	MCF-7	breast:
13	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
14	chr4:74123460..74124971-chr6:27773658..27776230,2	MCF-7	breast:
15	chr6:26124249..26127079-chr6:27774998..27777814,2	MCF-7	breast:
16	chr6:26270357..26275628-chr6:27773210..27778290,5	MCF-7	breast:
17	chr6:26196862..26203126-chr6:27774221..27779033,8	MCF-7	breast:
18	chr6:27217680..27220381-chr6:27773874..27775997,2	K562	blood:
19	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
20	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:
21	chr20:46253914..46256235-chr6:27775135..27778059,2	MCF-7	breast:
22	chr6:26216294..26218815-chr6:27772946..27775743,3	MCF-7	breast:
23	chr6:26201617..26205446-chr6:27775076..27778001,4	K562	blood:
24	chr6:27774293..27778194-chr6:28301096..28304976,3	K562	blood:
25	chr6:26204792..26206368-chr6:27774871..27776678,2	MCF-7	breast:
26	chr6:27111749..27120986-chr6:27774460..27781468,38	K562	blood:
27	chr6:26197916..26207803-chr6:27772547..27779655,13	K562	blood:

No data

Variant related genes	Relation type
HIST1H2AI	TF binding region
HIST1H3H	TF binding region
ENSG00000197697	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000250220	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000168395	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000124613	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000124529	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	chr6:27774200-27775400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:27774200-27775400	Flanking Active TSS	Dnd41	blood
3	chr6:27774200-27775400	Flanking Active TSS	HMEC	breast
4	chr6:27774200-27778000	Active TSS	K562	blood
5	chr6:27774200-27779200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:27774200-27779200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:27774200-27779400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:27774200-27779800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:27774200-27779800	Active TSS	Thymus	Thymus
10	chr6:27774200-27779800	Active TSS	A549	lung
11	chr6:27774400-27775400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr6:27774400-27775400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:27774400-27775400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr6:27774400-27775400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:27774400-27775400	Flanking Active TSS	Fetal Thymus	thymus
16	chr6:27774400-27775400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr6:27774400-27775400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr6:27774400-27775400	Flanking Active TSS	NHEK	skin
19	chr6:27774400-27775600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr6:27774400-27775600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:27774400-27775600	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr6:27774400-27776200	Active TSS	Rectal Smooth Muscle	rectum
23	chr6:27774400-27776400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:27774400-27776400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
25	chr6:27774400-27776400	Active TSS	Fetal Kidney	kidney
26	chr6:27774400-27776400	Active TSS	Fetal Lung	lung
27	chr6:27774400-27776400	Active TSS	NHLF	lung
28	chr6:27774400-27776800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:27774400-27776800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:27774400-27777000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:27774400-27777200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:27774400-27778400	Active TSS	Brain Germinal Matrix	brain
33	chr6:27774400-27778400	Active TSS	Fetal Intestine Large	intestine
34	chr6:27774400-27778800	Active TSS	Fetal Brain Female	brain
35	chr6:27774400-27779000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:27774400-27779200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:27774400-27779200	Active TSS	NHDF-Ad	bronchial
38	chr6:27774400-27780000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr6:27774400-27780000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:27774400-27780000	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:27774400-27780000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:27774400-27780200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr6:27774400-27784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr6:27774600-27775400	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr6:27774600-27775400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr6:27774600-27775400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr6:27774600-27775400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:27774600-27775400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr6:27774600-27775400	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr6:27774600-27775400	Flanking Active TSS	Placenta	Placenta

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