Variant report

Variant	rs575366571
Chromosome Location	chr4:100871297-100871298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:457)
CpG islands
(count:0)
Chromatin interactive
region (count:45)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:100871118-100872085	SK-N-SH	brain:	n/a	n/a
2	REST	chr4:100869811-100872485	H1-neurons	neurons:	n/a	n/a
3	TAF7	chr4:100871265-100871464	K562	blood:	n/a	n/a
4	TCF3	chr4:100871202-100871555	GM12878	blood:	n/a	n/a
5	MAZ	chr4:100871133-100872184	HepG2	liver:	n/a	chr4:100871615-100871624
6	POLR2A	chr4:100870314-100872085	GM10847	blood:	n/a	n/a
7	REST	chr4:100871153-100871547	A549	lung:	n/a	n/a
8	ETS1	chr4:100871231-100871570	K562	blood:	n/a	n/a
9	NFIC	chr4:100871138-100871632	GM12878	blood:	n/a	n/a
10	JUND	chr4:100871212-100871496	H1-hESC	embryonic stem cell:	n/a	n/a
11	USF2	chr4:100871267-100872005	H1-hESC	embryonic stem cell:	n/a	chr4:100871735-100871746
12	POLR2A	chr4:100870150-100871845	K562	blood:	n/a	n/a
13	CHD1	chr4:100869993-100872188	GM12878	blood:	n/a	n/a
14	ELF1	chr4:100871282-100871670	HepG2	liver:	n/a	n/a
15	POLR2A	chr4:100869904-100871586	GM12891	blood:	n/a	n/a
16	REST	chr4:100870098-100872122	HL-60	blood:	n/a	n/a
17	BCL3	chr4:100871169-100871628	A549	lung:	n/a	n/a
18	CREB1	chr4:100871062-100872088	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr4:100870217-100872164	MCF-7	breast:	n/a	n/a
20	POLR2A	chr4:100871101-100871575	SK-N-SH	brain:	n/a	n/a
21	GTF2B	chr4:100871244-100872044	K562	blood:	n/a	n/a
22	BHLHE40	chr4:100871211-100872296	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:100870127-100872617	Raji	blood:	n/a	n/a
24	HA-E2F1	chr4:100870132-100872374	MCF-7	breast:	n/a	chr4:100871550-100871559
25	BRCA1	chr4:100871228-100871573	HepG2	liver:	n/a	n/a
26	WRNIP1	chr4:100871195-100872513	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:100870146-100872114	PANC-1	pancreas:	n/a	n/a
28	BCL3	chr4:100871068-100871552	A549	lung:	n/a	n/a
29	HDAC2	chr4:100871142-100871583	MCF-7	breast:	n/a	n/a
30	REST	chr4:100871254-100871527	PANC-1	pancreas:	n/a	n/a
31	SIN3AK20	chr4:100871229-100871612	PFSK-1	brain:	n/a	n/a
32	TBP	chr4:100870033-100872440	K562	blood:	n/a	n/a
33	MXI1	chr4:100871213-100872115	K562	blood:	n/a	n/a
34	MAX	chr4:100871098-100872287	ECC-1	luminal epithelium:	n/a	chr4:100871615-100871624
35	TCF7L2	chr4:100870151-100872183	HCT-116	colon:	n/a	n/a
36	MAX	chr4:100871207-100871973	A549	lung:	n/a	chr4:100871615-100871624
37	FOXM1	chr4:100871100-100871839	GM12878	blood:	n/a	n/a
38	TAF1	chr4:100871177-100871587	GM12891	blood:	n/a	n/a
39	USF2	chr4:100871255-100871938	K562	blood:	n/a	chr4:100871735-100871746
40	ZNF143	chr4:100870121-100872320	K562	blood:	n/a	chr4:100871616-100871634
41	ZNF143	chr4:100871230-100871561	Hela-S3	cervix:	n/a	n/a
42	ATF2	chr4:100871090-100872118	GM12878	blood:	n/a	n/a
43	TAF1	chr4:100871123-100871916	MCF-7	breast:	n/a	n/a
44	STAT5A	chr4:100871125-100871594	GM12878	blood:	n/a	n/a
45	CEBPB	chr4:100871252-100872560	Hela-S3	cervix:	n/a	chr4:100871551-100871559
46	SP1	chr4:100871195-100871850	K562	blood:	n/a	chr4:100871549-100871570 chr4:100871632-100871646 chr4:100871622-100871636 chr4:100871612-100871622
47	POU2F2	chr4:100871126-100871624	GM12891	blood:	n/a	chr4:100871575-100871587 chr4:100871578-100871590
48	POLR2A	chr4:100870150-100872017	HUVEC	blood vessel:	n/a	n/a
49	BACH1	chr4:100870166-100871420	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr4:100871099-100872032	GM12878	blood:	n/a	chr4:100871848-100871857

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40886023..40886562-chr4:100871091..100871607,2	Hela-S3	cervix:
2	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
3	chr4:100869894..100871447-chr4:100910758..100913096,2	K562	blood:
4	chr17:11923049..11926004-chr4:100870025..100871677,2	MCF-7	breast:
5	chr21:46237469..46238317-chr4:100870908..100871458,2	Hela-S3	cervix:
6	chr4:99850379..99851880-chr4:100869996..100872136,2	K562	blood:
7	chr11:60928578..60929452-chr4:100871222..100871899,2	Hela-S3	cervix:
8	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
9	chr4:99848589..99851336-chr4:100870396..100872880,2	MCF-7	breast:
10	chr4:100814600..100817376-chr4:100869817..100872742,4	MCF-7	breast:
11	chr4:99848722..99851880-chr4:100870275..100872713,4	K562	blood:
12	chr4:100870088..100872119-chr4:103789876..103793001,3	K562	blood:
13	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
14	chr19:899198..902071-chr4:100869985..100872075,2	K562	blood:
15	chr16:75283952..75284833-chr4:100870945..100871827,2	Hela-S3	cervix:
16	chr4:100784573..100786604-chr4:100870218..100872169,2	K562	blood:
17	chr4:76597989..76600371-chr4:100870169..100871877,2	K562	blood:
18	chr19:1269051..1269796-chr4:100870870..100871604,2	Hela-S3	cervix:
19	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
20	chr1:148241097..148242092-chr4:100871015..100871613,2	Hela-S3	cervix:
21	chr3:73160104..73161068-chr4:100870920..100871540,2	Hela-S3	cervix:
22	chr4:100871249..100872202-chr9:19230443..19231402,2	Hela-S3	cervix:
23	chr4:100870905..100871510-chr5:115176773..115177440,2	NB4	blood:
24	chr19:751070..751830-chr4:100870953..100871942,2	Hela-S3	cervix:
25	chr13:91999673..92001318-chr4:100870740..100872493,2	K562	blood:
26	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:
27	chr4:100870517..100873586-chr4:103747603..103750269,4	K562	blood:
28	chr18:3594416..3594966-chr4:100870767..100871374,2	Hela-S3	cervix:
29	chr4:100737053..100739337-chr4:100869822..100871487,2	K562	blood:
30	chr12:50135277..50135820-chr4:100870509..100871438,2	Hela-S3	cervix:
31	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:
32	chr4:100737796..100739417-chr4:100869938..100872690,3	MCF-7	breast:
33	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
34	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
35	chr14:103058428..103059398-chr4:100870932..100871754,2	NB4	blood:
36	chr1:153508215..153509143-chr4:100870830..100871549,2	Hela-S3	cervix:
37	chr4:100784573..100786137-chr4:100870218..100872755,2	K562	blood:
38	chr4:99915636..99917371-chr4:100869943..100872361,4	K562	blood:
39	chr1:209957820..209958586-chr4:100871003..100871812,2	Hela-S3	cervix:
40	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
41	chr17:79280417..79282564-chr4:100871183..100873116,2	MCF-7	breast:
42	chr4:100483475..100486481-chr4:100870338..100872441,3	MCF-7	breast:
43	chr4:100009534..100010241-chr4:100870932..100871664,2	NB4	blood:
44	chr4:100483327..100486538-chr4:100869980..100873651,6	K562	blood:
45	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAPP1-1	chr4:100871163-100871385	ENSG00000245322.2

No data

Variant related genes	Relation type
DNAJB14	TF binding region
ENSG00000245322	TF binding region
ENSG00000223247	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000099812	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000065559	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000138757	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000177337	Chromatin interaction
ENSG00000167987	Chromatin interaction
ENSG00000198858	Chromatin interaction
ENSG00000070190	Chromatin interaction
ENSG00000137812	Chromatin interaction
ENSG00000241185	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000185168	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000099622	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000250403	Chromatin interaction
ENSG00000254531	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000162757	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000246560	Chromatin interaction
ENSG00000207501	Chromatin interaction
ENSG00000089902	Chromatin interaction
ENSG00000137145	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000138814	Chromatin interaction
ENSG00000265213	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	nsv879663	chr4:100866460-100876648	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	nsv967776	chr4:100869249-100872047	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv822668	chr4:100869757-100872113	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	esv19829	chr4:100870803-100871423	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv594944	chr4:100870899-100871931	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 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	chr4:100868600-100871600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:100868600-100872200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr4:100869000-100872400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:100869200-100872400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:100869200-100872800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:100869400-100872200	Active TSS	Brain Hippocampus Middle	brain
7	chr4:100869600-100872000	Active TSS	Fetal Brain Female	brain
8	chr4:100869600-100872200	Active TSS	NHLF	lung
9	chr4:100869600-100872400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr4:100869600-100872400	Active TSS	NHDF-Ad	bronchial
11	chr4:100869800-100872000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr4:100869800-100872000	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr4:100869800-100872000	Active TSS	Thymus	Thymus
14	chr4:100869800-100872200	Active TSS	Fetal Intestine Small	intestine
15	chr4:100869800-100872400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:100869800-100872400	Active TSS	Fetal Intestine Large	intestine
17	chr4:100869800-100872600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr4:100869800-100872600	Active TSS	Stomach Smooth Muscle	stomach
19	chr4:100869800-100872600	Active TSS	HSMMtube	muscle
20	chr4:100870000-100871400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
21	chr4:100870000-100871400	Active TSS	Right Atrium	heart
22	chr4:100870000-100872400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:100870000-100872400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:100870000-100872400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:100870000-100872400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:100870000-100872400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:100870000-100872400	Active TSS	Esophagus	oesophagus
28	chr4:100870000-100872400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr4:100870000-100872400	Active TSS	Ovary	ovary
30	chr4:100870000-100872400	Active TSS	Pancreas	Pancrea
31	chr4:100870000-100872600	Active TSS	Aorta	Aorta
32	chr4:100870000-100872600	Active TSS	Fetal Muscle Trunk	muscle
33	chr4:100870000-100872600	Active TSS	Left Ventricle	heart
34	chr4:100870000-100872600	Active TSS	Right Ventricle	heart
35	chr4:100870200-100871800	Active TSS	Placenta Amnion	Placenta Amnion
36	chr4:100870200-100872000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:100870200-100872000	Active TSS	Primary B cells from peripheral blood	blood
38	chr4:100870200-100872000	Active TSS	Primary T cells from cord blood	blood
39	chr4:100870200-100872000	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr4:100870200-100872000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:100870200-100872000	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr4:100870200-100872000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:100870200-100872000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr4:100870200-100872000	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:100870200-100872000	Active TSS	Fetal Brain Male	brain
46	chr4:100870200-100872000	Active TSS	Placenta	Placenta
47	chr4:100870200-100872000	Active TSS	HMEC	breast
48	chr4:100870200-100872000	Active TSS	HUVEC	blood vessel
49	chr4:100870200-100872000	Active TSS	NH-A	brain
50	chr4:100870200-100872200	Active TSS	HUES48 Cell Line	embryonic stem cell

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