Variant report

Variant	rs369350507
Chromosome Location	chr4:100869969-100869970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr4:100869811-100872485	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr4:100869904-100871586	GM12891	blood:	n/a	n/a
3	ATF2	chr4:100869939-100870983	GM12878	blood:	n/a	n/a
4	NFATC1	chr4:100869943-100871057	GM12878	blood:	n/a	n/a
5	STAT5A	chr4:100869911-100870936	GM12878	blood:	n/a	chr4:100870710-100870721
6	CEBPB	chr4:100869948-100870937	HCT-116	colon:	n/a	chr4:100870347-100870358
7	POLR2A	chr4:100869954-100872535	K562	blood:	n/a	n/a
8	POLR2A	chr4:100869903-100872462	GM12878	blood:	n/a	n/a
9	ATF2	chr4:100869900-100871025	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:100869910-100872210	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr4:100869872-100872064	GM12878	blood:	n/a	n/a
12	ATF2	chr4:100869887-100870874	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr4:100869869-100871047	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr4:100869902-100872122	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr4:100869730-100872330	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr4:100869938-100872171	HCT-116	colon:	n/a	n/a
17	POLR2A	chr4:100869919-100872239	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr4:100869901-100871001	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr4:100869732-100871017	U87	brain:	n/a	n/a
20	POLR2A	chr4:100869951-100871539	H1-hESC	embryonic stem cell:	n/a	n/a
21	MTA3	chr4:100869736-100871069	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:100869872-100871578	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr4:100869922-100870906	K562	blood:	n/a	n/a
24	BCLAF1	chr4:100869895-100870540	GM12878	blood:	n/a	n/a
25	CEBPB	chr4:100869963-100870897	K562	blood:	n/a	chr4:100870347-100870358
26	POLR2A	chr4:100869778-100872116	GM12892	blood:	n/a	n/a
27	PML	chr4:100869923-100872033	K562	blood:	n/a	n/a
28	POLR2A	chr4:100869947-100870986	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr4:100869924-100872484	PBDE	blood:	n/a	n/a
30	POU2F2	chr4:100869945-100871969	GM12878	blood:	n/a	chr4:100871575-100871587 chr4:100871578-100871590
31	POLR2A	chr4:100869857-100871046	GM12892	blood:	n/a	n/a
32	RAD21	chr4:100869815-100871044	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr4:100869890-100872247	GM12892	blood:	n/a	n/a
34	POLR2A	chr4:100869948-100872408	HL-60	blood:	n/a	n/a
35	HCFC1	chr4:100869930-100870695	Hela-S3	cervix:	n/a	n/a
36	TBL1XR1	chr4:100869929-100872221	K562	blood:	n/a	n/a
37	MTA3	chr4:100869931-100870905	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:100869787-100872099	K562	blood:	n/a	n/a
39	RAD21	chr4:100869933-100870618	HCT-116	colon:	n/a	n/a
40	POLR2A	chr4:100869960-100872173	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:100869823-100871950	GM12878	blood:	n/a	n/a
42	CTCF	chr4:100869902-100871075	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr4:100869928-100870983	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:100869943-100872122	GM12878	blood:	n/a	n/a
45	MAZ	chr4:100869899-100872506	IMR90	lung:	n/a	chr4:100871615-100871624
46	KAP1	chr4:100869830-100870903	HEK293	kidney:	n/a	n/a
47	POLR2A	chr4:100869401-100872488	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:100869947-100872213	K562	blood:	n/a	n/a
49	POLR2A	chr4:100869933-100870955	GM12891	blood:	n/a	n/a
50	POLR2A	chr4:100865896-100872667	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100869660..100871292-chr4:129732222..129733752,2	K562	blood:
2	chr4:100777426..100780201-chr4:100868427..100870605,2	K562	blood:
3	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
4	chr4:100869894..100871447-chr4:100910758..100913096,2	K562	blood:
5	chr4:100868231..100870491-chr4:101024426..101027309,2	K562	blood:
6	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
7	chr4:100814600..100817376-chr4:100869817..100872742,4	MCF-7	breast:
8	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
9	chr4:100869528..100871186-chr4:107235611..107237116,2	K562	blood:
10	chr4:100733036..100733650-chr4:100869824..100870747,2	K562	blood:
11	chr4:100868036..100870819-chr4:100983381..100985122,2	K562	blood:
12	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
13	chr4:100868745..100870761-chr4:100992723..100994637,2	K562	blood:
14	chr4:100732685..100733656-chr4:100869707..100870512,2	MCF-7	breast:
15	chr4:100729924..100732920-chr4:100868919..100870955,3	K562	blood:
16	chr4:100856020..100858032-chr4:100868560..100871073,2	K562	blood:
17	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:
18	chr4:87927389..87929061-chr4:100868201..100870359,2	K562	blood:
19	chr4:100737053..100739337-chr4:100869822..100871487,2	K562	blood:
20	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:
21	chr4:100737796..100739417-chr4:100869938..100872690,3	MCF-7	breast:
22	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
23	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
24	chr4:100733785..100736226-chr4:100868711..100870778,2	MCF-7	breast:
25	chr4:100458736..100461686-chr4:100868132..100870522,2	K562	blood:
26	chr4:100869091..100871239-chr4:103351380..103353176,2	K562	blood:
27	chr4:99915636..99917371-chr4:100869943..100872361,4	K562	blood:
28	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
29	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:
30	chr4:100826139..100827985-chr4:100868304..100870406,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245322	TF binding region
DNAJB14	TF binding region
ENSG00000250403	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000265213	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000070190	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000138821	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000164022	Chromatin interaction
ENSG00000248161	Chromatin interaction
ENSG00000254531	Chromatin interaction
ENSG00000138814	Chromatin interaction
ENSG00000164024	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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100868000-100871000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr4:100868200-100870000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:100868200-100870200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:100868200-100870200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:100868200-100870200	Transcr. at gene 5' and 3'	A549	lung
6	chr4:100868200-100870600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:100868400-100870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:100868400-100870000	Weak transcription	Esophagus	oesophagus
9	chr4:100868400-100870000	Enhancers	Fetal Heart	heart
10	chr4:100868400-100870000	Weak transcription	Left Ventricle	heart
11	chr4:100868400-100870000	Weak transcription	Ovary	ovary
12	chr4:100868400-100870000	Weak transcription	Spleen	Spleen
13	chr4:100868400-100870200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
14	chr4:100868400-100870200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
15	chr4:100868400-100870200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:100868400-100870200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
17	chr4:100868400-100870200	Transcr. at gene 5' and 3'	K562	blood
18	chr4:100868400-100870400	Weak transcription	Lung	lung
19	chr4:100868400-100870400	Weak transcription	Small Intestine	intestine
20	chr4:100868400-100870400	Transcr. at gene 5' and 3'	NHEK	skin
21	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
22	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
23	chr4:100868600-100870000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:100868600-100870000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:100868600-100870000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
26	chr4:100868600-100870000	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr4:100868600-100870000	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:100868600-100870000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
29	chr4:100868600-100870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:100868600-100870000	Weak transcription	Brain Angular Gyrus	brain
31	chr4:100868600-100870000	Enhancers	Brain Substantia Nigra	brain
32	chr4:100868600-100870000	Enhancers	Colon Smooth Muscle	Colon
33	chr4:100868600-100870000	Weak transcription	Gastric	stomach
34	chr4:100868600-100870000	Weak transcription	Pancreas	Pancrea
35	chr4:100868600-100870000	Weak transcription	Psoas Muscle	Psoas
36	chr4:100868600-100870000	Weak transcription	Right Atrium	heart
37	chr4:100868600-100870000	Weak transcription	Right Ventricle	heart
38	chr4:100868600-100870200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:100868600-100870200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
40	chr4:100868600-100870200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
41	chr4:100868600-100870200	Transcr. at gene 5' and 3'	Hela-S3	cervix
42	chr4:100868600-100870200	Transcr. at gene 5' and 3'	HMEC	breast
43	chr4:100868600-100870400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:100868600-100871600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:100868600-100872200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr4:100868800-100870000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr4:100868800-100870000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:100868800-100870000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr4:100868800-100870000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:100868800-100870000	Strong transcription	Placenta	Placenta

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