Variant report

Variant	rs570699788
Chromosome Location	chr4:100868179-100868180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:376)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:376 , 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	E2F4	chr4:100868049-100868443	GM12878	blood:	n/a	n/a
11	NFIC	chr4:100867813-100868403	HepG2	liver:	n/a	n/a
12	ETS1	chr4:100867584-100868483	K562	blood:	n/a	chr4:100868305-100868314 chr4:100868305-100868314 chr4:100868303-100868313 chr4:100868303-100868314
13	RCOR1	chr4:100867677-100868449	K562	blood:	n/a	n/a
14	RCOR1	chr4:100867032-100868313	Hela-S3	cervix:	n/a	n/a
15	GABPA	chr4:100867247-100868620	MCF-7	breast:	n/a	n/a
16	CHD1	chr4:100867120-100868393	GM12878	blood:	n/a	n/a
17	NR2F2	chr4:100867882-100868485	K562	blood:	n/a	n/a
18	POLR2A	chr4:100866646-100869373	GM12878	blood:	n/a	n/a
19	TCF12	chr4:100867476-100868776	ECC-1	luminal epithelium:	n/a	n/a
20	POU2F2	chr4:100867484-100868381	GM12891	blood:	n/a	n/a
21	POLR2A	chr4:100867209-100869342	GM12892	blood:	n/a	n/a
22	POLR2A	chr4:100867247-100869314	K562	blood:	n/a	n/a
23	TCF7L2	chr4:100867847-100868969	PANC-1	pancreas:	n/a	chr4:100868838-100868847
24	PAX5	chr4:100867296-100868233	GM12892	blood:	n/a	n/a
25	MAZ	chr4:100867014-100868331	HepG2	liver:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
26	USF2	chr4:100868134-100868665	Hela-S3	cervix:	n/a	n/a
27	MAX	chr4:100867619-100868372	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr4:100867361-100869261	GM12892	blood:	n/a	n/a
29	BCL11A	chr4:100867600-100868432	GM12878	blood:	n/a	chr4:100868305-100868314
30	RUNX3	chr4:100867036-100868813	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:100867579-100868840	HepG2	liver:	n/a	n/a
32	TRIM28	chr4:100867530-100869152	K562	blood:	n/a	n/a
33	USF1	chr4:100868040-100868360	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr4:100867156-100868713	ProgFib	skin:	n/a	n/a
35	POLR2A	chr4:100867542-100868203	A549	lung:	n/a	n/a
36	POLR2A	chr4:100867455-100869237	PFSK-1	brain:	n/a	n/a
37	ZBTB7A	chr4:100867596-100868365	ECC-1	luminal epithelium:	n/a	n/a
38	EGR1	chr4:100867583-100868352	K562	blood:	n/a	chr4:100867787-100867801 chr4:100868305-100868314
39	UBTF	chr4:100867252-100868364	K562	blood:	n/a	n/a
40	TEAD4	chr4:100867622-100868684	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr4:100867543-100869155	K562	blood:	n/a	n/a
42	ELF1	chr4:100867057-100868836	GM12878	blood:	n/a	chr4:100867411-100867423 chr4:100867351-100867363 chr4:100868306-100868315 chr4:100868305-100868316
43	SIN3AK20	chr4:100868118-100868413	PFSK-1	brain:	n/a	n/a
44	MYC	chr4:100866924-100868436	NB4	blood:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
45	CREB1	chr4:100867544-100868373	A549	lung:	n/a	n/a
46	ZNF143	chr4:100867652-100868398	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr4:100867062-100869317	H1-hESC	embryonic stem cell:	n/a	n/a
48	UBTF	chr4:100867084-100868631	K562	blood:	n/a	n/a
49	POLR2A	chr4:100867427-100868846	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr4:100867181-100868655	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100868132-100868182	PFSK-1	brain:	n/a
2	chr4:100868132-100868182	Caco-2	colon:	n/a
3	chr4:100868132-100868182	HIPEpiC	eye:	n/a
4	chr4:100868132-100868182	HCM	heart:	n/a
5	chr4:100868132-100868182	SK-N-SH	brain:	n/a
6	chr4:100868132-100868182	U87	brain:	n/a
7	chr4:100868132-100868182	HMEC	breast:	n/a
8	chr4:100868132-100868182	GM12878	blood:	n/a
9	chr4:100868132-100868182	AG10803	skin:	n/a
10	chr4:100868132-100868182	PANC-1	pancreas:	n/a
11	chr4:100868132-100868182	AG09309	skin:	n/a
12	chr4:100868132-100868182	HEEpiC	esophagus:	n/a
13	chr4:100868132-100868182	HAEpiC	amniotic membrane:	n/a
14	chr4:100868132-100868182	AoSMC	blood vessel:	n/a
15	chr4:100868132-100868182	HCPEpiC	choroid plexus:	n/a
16	chr4:100868132-100868182	NH-A	brain:	n/a
17	chr4:100868132-100868182	Jurkat	blood:	n/a
18	chr4:100868132-100868182	SKMC	muscle:	n/a
19	chr4:100868132-100868182	AG04450	lung:	fetal
20	chr4:100868132-100868182	Hepatocyte	liver:	n/a
21	chr4:100868132-100868182	CMK	blood:	n/a
22	chr4:100868132-100868182	GM12891	blood:	n/a
23	chr4:100868132-100868182	SK-N-SH_RA	brain:	n/a
24	chr4:100868132-100868182	HNPCEpiC	eye:	n/a
25	chr4:100868132-100868182	AG04449	skin:	fetal
26	chr4:100868132-100868182	K562	blood:	n/a
27	chr4:100868132-100868182	HEK293	kidney:	embryo
28	chr4:100868132-100868182	PrEC	prostate:	n/a
29	chr4:100868132-100868182	GM12892	blood:	n/a
30	chr4:100868132-100868182	AG09319	gingival:	n/a
31	chr4:100868132-100868182	BJ	skin:	n/a
32	chr4:100868132-100868182	T-47D	breast:	n/a
33	chr4:100868132-100868182	A549	lung:	n/a
34	chr4:100868132-100868182	ProgFib	skin:	n/a
35	chr4:100868132-100868182	HRE	kidney:	n/a
36	chr4:100868132-100868182	MCF10A-Er-Src	breast:	n/a
37	chr4:100868132-100868182	GM19239	blood:	n/a
38	chr4:100868132-100868182	NT2-D1	testis:	n/a
39	chr4:100868132-100868182	MCF-7	breast:	n/a
40	chr4:100868132-100868182	NHDF-neo	bronchial:	n/a
41	chr4:100868132-100868182	NB4	blood:	n/a
42	chr4:100868132-100868182	SAEC	small airway:	n/a
43	chr4:100868132-100868182	NHBE	bronchial:	n/a
44	chr4:100868132-100868182	HUVEC	blood vessel:	n/a
45	chr4:100868132-100868182	LNCaP	prostate:	n/a
46	chr4:100868132-100868182	HL-60	blood:	n/a
47	chr4:100868132-100868182	ECC-1	luminal epithelium:	n/a
48	chr4:100868132-100868182	HRCEpiC	kidney:	n/a
49	chr4:100868132-100868182	H1-hESC	embryonic stem cell:	embryo
50	chr4:100868132-100868182	BE2_C	brain:	n/a

(count:15 , 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	chr4:100868036..100870819-chr4:100983381..100985122,2	K562	blood:
5	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
6	chr13:37574255..37575091-chr4:100867405..100868184,2	HCT-116	colon:
7	chr4:100848205..100853069-chr4:100866591..100869335,5	MCF-7	breast:
8	chr4:100814213..100816552-chr4:100866797..100868818,3	MCF-7	breast:
9	chr4:100735638..100738493-chr4:100866484..100869243,2	MCF-7	breast:
10	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
11	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
12	chr4:100458736..100461686-chr4:100868132..100870522,2	K562	blood:
13	chr4:100845037..100846550-chr4:100867903..100869729,2	MCF-7	breast:
14	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
15	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245322	TF binding region
DNAJB14	TF binding region
DNAJB14	CpG island
ENSG00000245322	CpG island
ENSG00000070190	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000120699	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	chr4:100865400-100868200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:100865800-100868600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:100866000-100868200	Active TSS	A549	lung
4	chr4:100866000-100868200	Active TSS	NHLF	lung
5	chr4:100866000-100868400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:100866000-100868400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:100866000-100868400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr4:100866000-100868600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr4:100866000-100868800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:100866200-100868200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:100866200-100868200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:100866200-100868200	Active TSS	HSMM	muscle
13	chr4:100866200-100868200	Active TSS	NHDF-Ad	bronchial
14	chr4:100866200-100868400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:100866200-100868400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr4:100866200-100868400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:100866400-100868200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:100866400-100868400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:100866400-100868600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:100866600-100868200	Active TSS	Placenta	Placenta
21	chr4:100866600-100868200	Active TSS	Stomach Mucosa	stomach
22	chr4:100866600-100868400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr4:100866600-100868400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:100866600-100868400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:100866600-100868400	Active TSS	Ovary	ovary
26	chr4:100866600-100868600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:100866600-100868600	Active TSS	Psoas Muscle	Psoas
28	chr4:100866800-100868200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:100866800-100868200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr4:100866800-100868200	Active TSS	Fetal Brain Female	brain
31	chr4:100866800-100868200	Active TSS	Fetal Intestine Small	intestine
32	chr4:100866800-100868200	Active TSS	Fetal Muscle Leg	muscle
33	chr4:100866800-100868200	Active TSS	Fetal Stomach	stomach
34	chr4:100866800-100868200	Active TSS	Fetal Thymus	thymus
35	chr4:100866800-100868400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:100866800-100868400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:100866800-100868400	Active TSS	Fetal Intestine Large	intestine
38	chr4:100866800-100868400	Active TSS	Left Ventricle	heart
39	chr4:100866800-100868400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr4:100866800-100868600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:100866800-100868600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr4:100866800-100868800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:100866800-100868800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:100866800-100869000	Active TSS	Aorta	Aorta
45	chr4:100867000-100868200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:100867000-100868200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:100867000-100868200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:100867000-100868200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:100867000-100868200	Active TSS	Brain Angular Gyrus	brain
50	chr4:100867000-100868200	Active TSS	Brain Cingulate Gyrus	brain

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