Variant report

Variant	rs534075625
Chromosome Location	chr4:100867248-100867249
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:100867120-100867270	HMEC	breast:	n/a	chr4:100867169-100867190 chr4:100867167-100867185
2	POLR2A	chr4:100867018-100869286	K562	blood:	n/a	n/a
3	CTCF	chr4:100867100-100867250	AG04449	skin:	n/a	chr4:100867169-100867190 chr4:100867167-100867185
4	ELF1	chr4:100867205-100868517	K562	blood:	n/a	chr4:100867411-100867423 chr4:100867351-100867363 chr4:100868306-100868315 chr4:100868305-100868316
5	MAZ	chr4:100866745-100868746	IMR90	lung:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
6	RCOR1	chr4:100867032-100868313	Hela-S3	cervix:	n/a	n/a
7	GABPA	chr4:100867247-100868620	MCF-7	breast:	n/a	n/a
8	TAF1	chr4:100867228-100867415	SK-N-SH	brain:	n/a	n/a
9	CHD1	chr4:100867120-100868393	GM12878	blood:	n/a	n/a
10	CTCF	chr4:100867120-100867270	SK-N-SH_RA	brain:	n/a	chr4:100867169-100867190 chr4:100867167-100867185
11	POLR2A	chr4:100866646-100869373	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:100867209-100869342	GM12892	blood:	n/a	n/a
13	POLR2A	chr4:100867247-100869314	K562	blood:	n/a	n/a
14	MAZ	chr4:100867014-100868331	HepG2	liver:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
15	TCF12	chr4:100867145-100867545	A549	lung:	n/a	n/a
16	IRF1	chr4:100866882-100867266	K562	blood:	n/a	n/a
17	RUNX3	chr4:100867036-100868813	GM12878	blood:	n/a	n/a
18	CTCF	chr4:100867180-100867330	BJ	skin:	n/a	n/a
19	FOXA2	chr4:100866972-100867295	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:100867156-100868713	ProgFib	skin:	n/a	n/a
21	GATA2	chr4:100866919-100868151	SH-SY5Y	brain:	n/a	chr4:100867566-100867576 chr4:100867999-100868006 chr4:100866923-100866930
22	RAD21	chr4:100867104-100867318	H1-hESC	embryonic stem cell:	n/a	chr4:100867170-100867177
23	CTCF	chr4:100867066-100867370	GM12878	blood:	n/a	chr4:100867169-100867190 chr4:100867167-100867185
24	CTCF	chr4:100867140-100867290	GM12864	blood:	n/a	chr4:100867169-100867190 chr4:100867167-100867185
25	ELF1	chr4:100867057-100868836	GM12878	blood:	n/a	chr4:100867411-100867423 chr4:100867351-100867363 chr4:100868306-100868315 chr4:100868305-100868316
26	POLR2A	chr4:100867054-100867342	SK-N-SH	brain:	n/a	n/a
27	MYC	chr4:100866924-100868436	NB4	blood:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
28	POLR2A	chr4:100867062-100869317	H1-hESC	embryonic stem cell:	n/a	n/a
29	UBTF	chr4:100867084-100868631	K562	blood:	n/a	n/a
30	POLR2A	chr4:100867181-100868655	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr4:100867156-100869393	K562	blood:	n/a	n/a
32	MAX	chr4:100867235-100868419	GM12878	blood:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
33	MAFF	chr4:100866908-100867253	K562	blood:	n/a	n/a
34	CTCF	chr4:100867120-100867270	HRE	kidney:	n/a	chr4:100867169-100867190 chr4:100867167-100867185
35	CTCF	chr4:100867100-100867250	GM12866	blood:	n/a	chr4:100867169-100867190 chr4:100867167-100867185
36	POLR2A	chr4:100866993-100867414	H1-neurons	neurons:	n/a	n/a
37	HA-E2F1	chr4:100867140-100868388	MCF-7	breast:	n/a	n/a
38	GABPA	chr4:100867222-100867465	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:100867205-100869132	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:100867159-100868628	GM12878	blood:	n/a	n/a
41	WRNIP1	chr4:100866979-100867576	GM12878	blood:	n/a	n/a
42	CTCF	chr4:100867120-100867270	HCPEpiC	choroid plexus:	n/a	chr4:100867169-100867190 chr4:100867167-100867185
43	PML	chr4:100867084-100869044	GM12878	blood:	n/a	chr4:100867376-100867384
44	MTA3	chr4:100867045-100869185	GM12878	blood:	n/a	n/a
45	RCOR1	chr4:100866860-100867459	HepG2	liver:	n/a	n/a
46	CTCF	chr4:100867120-100867270	AG10803	skin:	n/a	chr4:100867169-100867190 chr4:100867167-100867185
47	MYC	chr4:100867017-100868408	K562	blood:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
48	HEY1	chr4:100867146-100867508	K562	blood:	n/a	chr4:100867425-100867440
49	TBP	chr4:100867122-100868293	K562	blood:	n/a	n/a
50	POLR2A	chr4:100867204-100868939	Raji	blood:	n/a	n/a

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	chr4:100848205..100853069-chr4:100866591..100869335,5	MCF-7	breast:
6	chr4:100814213..100816552-chr4:100866797..100868818,3	MCF-7	breast:
7	chr4:100735638..100738493-chr4:100866484..100869243,2	MCF-7	breast:
8	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
9	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
10	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:

Variant related genes	Relation type
ENSG00000245322	TF binding region
ENSG00000164031	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000246090	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	chr4:100866200-100867400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:100866200-100867400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:100866200-100867400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr4:100866200-100867600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr4:100866200-100868000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:100866200-100868000	Active TSS	Brain Germinal Matrix	brain
17	chr4:100866200-100868200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:100866200-100868200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:100866200-100868200	Active TSS	HSMM	muscle
20	chr4:100866200-100868200	Active TSS	NHDF-Ad	bronchial
21	chr4:100866200-100868400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr4:100866200-100868400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr4:100866200-100868400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr4:100866400-100867600	Active TSS	Right Atrium	heart
25	chr4:100866400-100868000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:100866400-100868000	Active TSS	HMEC	breast
27	chr4:100866400-100868200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:100866400-100868400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:100866400-100868600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:100866600-100867400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr4:100866600-100867400	Flanking Active TSS	Liver	Liver
32	chr4:100866600-100868000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:100866600-100868000	Active TSS	Colonic Mucosa	Colon
34	chr4:100866600-100868200	Active TSS	Placenta	Placenta
35	chr4:100866600-100868200	Active TSS	Stomach Mucosa	stomach
36	chr4:100866600-100868400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr4:100866600-100868400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:100866600-100868400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:100866600-100868400	Active TSS	Ovary	ovary
40	chr4:100866600-100868600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:100866600-100868600	Active TSS	Psoas Muscle	Psoas
42	chr4:100866800-100867400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr4:100866800-100868000	Active TSS	Primary T cells fromperipheralblood	blood
44	chr4:100866800-100868000	Active TSS	Fetal Muscle Trunk	muscle
45	chr4:100866800-100868200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:100866800-100868200	Active TSS	Muscle Satellite Cultured Cells	--
47	chr4:100866800-100868200	Active TSS	Fetal Brain Female	brain
48	chr4:100866800-100868200	Active TSS	Fetal Intestine Small	intestine
49	chr4:100866800-100868200	Active TSS	Fetal Muscle Leg	muscle
50	chr4:100866800-100868200	Active TSS	Fetal Stomach	stomach

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