Variant report

Variant	rs112389785
Chromosome Location	chr4:100867981-100867982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:361)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF7	chr4:100867709-100868388	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr4:100867563-100868509	MCF-7	breast:	n/a	n/a
3	POLR2A	chr4:100867018-100869286	K562	blood:	n/a	n/a
4	NFIC	chr4:100867534-100868460	ECC-1	luminal epithelium:	n/a	n/a
5	BCL3	chr4:100867503-100869024	A549	lung:	n/a	chr4:100868305-100868314
6	FOXP2	chr4:100867623-100868207	PFSK-1	brain:	n/a	n/a
7	ELF1	chr4:100867205-100868517	K562	blood:	n/a	chr4:100867411-100867423 chr4:100867351-100867363 chr4:100868306-100868315 chr4:100868305-100868316
8	POLR2A	chr4:100867544-100869359	K562	blood:	n/a	n/a
9	MAZ	chr4:100866745-100868746	IMR90	lung:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
10	NFIC	chr4:100867813-100868403	HepG2	liver:	n/a	n/a
11	ETS1	chr4:100867584-100868483	K562	blood:	n/a	chr4:100868305-100868314 chr4:100868305-100868314 chr4:100868303-100868313 chr4:100868303-100868314
12	RCOR1	chr4:100867677-100868449	K562	blood:	n/a	n/a
13	RCOR1	chr4:100867032-100868313	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr4:100867247-100868620	MCF-7	breast:	n/a	n/a
15	CHD1	chr4:100867120-100868393	GM12878	blood:	n/a	n/a
16	NR2F2	chr4:100867882-100868485	K562	blood:	n/a	n/a
17	POLR2A	chr4:100866646-100869373	GM12878	blood:	n/a	n/a
18	TCF12	chr4:100867476-100868776	ECC-1	luminal epithelium:	n/a	n/a
19	POU2F2	chr4:100867484-100868381	GM12891	blood:	n/a	n/a
20	POLR2A	chr4:100867209-100869342	GM12892	blood:	n/a	n/a
21	POLR2A	chr4:100867247-100869314	K562	blood:	n/a	n/a
22	TCF7L2	chr4:100867847-100868969	PANC-1	pancreas:	n/a	chr4:100868838-100868847
23	PAX5	chr4:100867296-100868233	GM12892	blood:	n/a	n/a
24	MAZ	chr4:100867014-100868331	HepG2	liver:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
25	MAX	chr4:100867619-100868372	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr4:100867361-100869261	GM12892	blood:	n/a	n/a
27	BCL11A	chr4:100867600-100868432	GM12878	blood:	n/a	chr4:100868305-100868314
28	RUNX3	chr4:100867036-100868813	GM12878	blood:	n/a	n/a
29	POLR2A	chr4:100867579-100868840	HepG2	liver:	n/a	n/a
30	TRIM28	chr4:100867530-100869152	K562	blood:	n/a	n/a
31	POLR2A	chr4:100867156-100868713	ProgFib	skin:	n/a	n/a
32	POLR2A	chr4:100867542-100868203	A549	lung:	n/a	n/a
33	POLR2A	chr4:100867455-100869237	PFSK-1	brain:	n/a	n/a
34	GATA2	chr4:100866919-100868151	SH-SY5Y	brain:	n/a	chr4:100867566-100867576 chr4:100867999-100868006 chr4:100866923-100866930
35	ZBTB7A	chr4:100867596-100868365	ECC-1	luminal epithelium:	n/a	n/a
36	EGR1	chr4:100867583-100868352	K562	blood:	n/a	chr4:100867787-100867801 chr4:100868305-100868314
37	UBTF	chr4:100867252-100868364	K562	blood:	n/a	n/a
38	TEAD4	chr4:100867622-100868684	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr4:100867543-100869155	K562	blood:	n/a	n/a
40	ELF1	chr4:100867057-100868836	GM12878	blood:	n/a	chr4:100867411-100867423 chr4:100867351-100867363 chr4:100868306-100868315 chr4:100868305-100868316
41	IRF1	chr4:100867612-100868008	K562	blood:	n/a	chr4:100867895-100867909
42	MYC	chr4:100866924-100868436	NB4	blood:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
43	CREB1	chr4:100867544-100868373	A549	lung:	n/a	n/a
44	ZNF143	chr4:100867652-100868398	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr4:100867062-100869317	H1-hESC	embryonic stem cell:	n/a	n/a
46	PAX5	chr4:100867469-100868006	GM12878	blood:	n/a	n/a
47	UBTF	chr4:100867084-100868631	K562	blood:	n/a	n/a
48	POLR2A	chr4:100867427-100868846	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr4:100867181-100868655	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr4:100867156-100869393	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100867933-100867983	HCPEpiC	choroid plexus:	n/a
2	chr4:100867933-100867983	A549	lung:	n/a
3	chr4:100867933-100867983	HRPEpiC	eye:	n/a
4	chr4:100867933-100867983	SK-N-SH	brain:	n/a
5	chr4:100867933-100867983	AG10803	skin:	n/a
6	chr4:100867933-100867983	HNPCEpiC	eye:	n/a
7	chr4:100867933-100867983	LNCaP	prostate:	n/a
8	chr4:100867933-100867983	Caco-2	colon:	n/a
9	chr4:100867933-100867983	NT2-D1	testis:	n/a
10	chr4:100867933-100867983	HEEpiC	esophagus:	n/a
11	chr4:100867933-100867983	SKMC	muscle:	n/a
12	chr4:100867933-100867983	Jurkat	blood:	n/a
13	chr4:100867933-100867983	U87	brain:	n/a
14	chr4:100867933-100867983	HepG2	liver:	n/a
15	chr4:100867933-100867983	HPAEpiC	pulmonary alveolar:	n/a
16	chr4:100867933-100867983	HIPEpiC	eye:	n/a
17	chr4:100867933-100867983	H1-hESC	embryonic stem cell:	embryo
18	chr4:100867933-100867983	HUVEC	blood vessel:	n/a
19	chr4:100867933-100867983	T-47D	breast:	n/a
20	chr4:100867933-100867983	BJ	skin:	n/a
21	chr4:100867933-100867983	PFSK-1	brain:	n/a
22	chr4:100867933-100867983	HMEC	breast:	n/a
23	chr4:100867933-100867983	NHDF-neo	bronchial:	n/a
24	chr4:100867933-100867983	CMK	blood:	n/a
25	chr4:100867933-100867983	Hela-S3	cervix:	n/a
26	chr4:100867933-100867983	HRCEpiC	kidney:	n/a
27	chr4:100867933-100867983	NB4	blood:	n/a
28	chr4:100867933-100867983	MCF10A-Er-Src	breast:	n/a
29	chr4:100867933-100867983	SK-N-SH_RA	brain:	n/a
30	chr4:100867933-100867983	MCF-7	breast:	n/a
31	chr4:100867933-100867983	AG04449	skin:	fetal
32	chr4:100867933-100867983	GM12891	blood:	n/a
33	chr4:100867933-100867983	AoSMC	blood vessel:	n/a
34	chr4:100867933-100867983	HAEpiC	amniotic membrane:	n/a
35	chr4:100867933-100867983	ECC-1	luminal epithelium:	n/a
36	chr4:100867933-100867983	SK-N-MC	brain:	n/a
37	chr4:100867933-100867983	GM12878	blood:	n/a
38	chr4:100867933-100867983	HL-60	blood:	n/a
39	chr4:100867933-100867983	NHBE	bronchial:	n/a
40	chr4:100867933-100867983	HCM	heart:	n/a
41	chr4:100867933-100867983	GM06990	blood:	n/a
42	chr4:100867933-100867983	HCT-116	colon:	n/a
43	chr4:100867933-100867983	ProgFib	skin:	n/a
44	chr4:100867933-100867983	HRE	kidney:	n/a
45	chr4:100867933-100867983	NH-A	brain:	n/a
46	chr4:100867933-100867983	HCF	heart:	n/a
47	chr4:100867933-100867983	IMR90	lung:	fetal
48	chr4:100867933-100867983	GM19239	blood:	n/a
49	chr4:100867933-100867983	Hepatocyte	liver:	n/a
50	chr4:100867933-100867983	PANC-1	pancreas:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100008800..100012914-chr4:100866380..100869813,4	K562	blood:
2	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
3	chr4:100008800..100013313-chr4:100866380..100869813,5	K562	blood:
4	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
5	chr13:37574255..37575091-chr4:100867405..100868184,2	HCT-116	colon:
6	chr4:100848205..100853069-chr4:100866591..100869335,5	MCF-7	breast:
7	chr4:100814213..100816552-chr4:100866797..100868818,3	MCF-7	breast:
8	chr4:100735638..100738493-chr4:100866484..100869243,2	MCF-7	breast:
9	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
10	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
11	chr4:100845037..100846550-chr4:100867903..100869729,2	MCF-7	breast:
12	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
13	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:

No data

Variant related genes	Relation type
DNAJB14	TF binding region
ENSG00000245322	TF binding region
DNAJB14	CpG island
ENSG00000245322	CpG island
ENSG00000197894	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000120699	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000070190	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100865200-100868000	Active TSS	GM12878-XiMat	blood
2	chr4:100865400-100868200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:100865800-100868600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:100866000-100868200	Active TSS	A549	lung
5	chr4:100866000-100868200	Active TSS	NHLF	lung
6	chr4:100866000-100868400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr4:100866000-100868400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr4:100866000-100868400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:100866000-100868600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:100866000-100868800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:100866200-100868000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:100866200-100868000	Active TSS	Brain Germinal Matrix	brain
13	chr4:100866200-100868200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:100866200-100868200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:100866200-100868200	Active TSS	HSMM	muscle
16	chr4:100866200-100868200	Active TSS	NHDF-Ad	bronchial
17	chr4:100866200-100868400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr4:100866200-100868400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr4:100866200-100868400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr4:100866400-100868000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:100866400-100868000	Active TSS	HMEC	breast
22	chr4:100866400-100868200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:100866400-100868400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:100866400-100868600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:100866600-100868000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:100866600-100868000	Active TSS	Colonic Mucosa	Colon
27	chr4:100866600-100868200	Active TSS	Placenta	Placenta
28	chr4:100866600-100868200	Active TSS	Stomach Mucosa	stomach
29	chr4:100866600-100868400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr4:100866600-100868400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:100866600-100868400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:100866600-100868400	Active TSS	Ovary	ovary
33	chr4:100866600-100868600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:100866600-100868600	Active TSS	Psoas Muscle	Psoas
35	chr4:100866800-100868000	Active TSS	Primary T cells fromperipheralblood	blood
36	chr4:100866800-100868000	Active TSS	Fetal Muscle Trunk	muscle
37	chr4:100866800-100868200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:100866800-100868200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr4:100866800-100868200	Active TSS	Fetal Brain Female	brain
40	chr4:100866800-100868200	Active TSS	Fetal Intestine Small	intestine
41	chr4:100866800-100868200	Active TSS	Fetal Muscle Leg	muscle
42	chr4:100866800-100868200	Active TSS	Fetal Stomach	stomach
43	chr4:100866800-100868200	Active TSS	Fetal Thymus	thymus
44	chr4:100866800-100868400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:100866800-100868400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:100866800-100868400	Active TSS	Fetal Intestine Large	intestine
47	chr4:100866800-100868400	Active TSS	Left Ventricle	heart
48	chr4:100866800-100868400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr4:100866800-100868600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:100866800-100868600	Active TSS	Pancreatic Islets	Pancreatic Islet

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