Variant report

Variant	rs377333797
Chromosome Location	chr4:100867553-100867554
allele	A/G
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	POLR2A	chr4:100867018-100869286	K562	blood:	n/a	n/a
2	NFIC	chr4:100867534-100868460	ECC-1	luminal epithelium:	n/a	n/a
3	BCL3	chr4:100867503-100869024	A549	lung:	n/a	chr4:100868305-100868314
4	ELF1	chr4:100867205-100868517	K562	blood:	n/a	chr4:100867411-100867423 chr4:100867351-100867363 chr4:100868306-100868315 chr4:100868305-100868316
5	POLR2A	chr4:100867544-100869359	K562	blood:	n/a	n/a
6	MAZ	chr4:100866745-100868746	IMR90	lung:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
7	RCOR1	chr4:100867032-100868313	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr4:100867247-100868620	MCF-7	breast:	n/a	n/a
9	CHD1	chr4:100867120-100868393	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:100866646-100869373	GM12878	blood:	n/a	n/a
11	YY1	chr4:100867533-100867971	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr4:100867476-100868776	ECC-1	luminal epithelium:	n/a	n/a
13	POU2F2	chr4:100867484-100868381	GM12891	blood:	n/a	n/a
14	POLR2A	chr4:100867209-100869342	GM12892	blood:	n/a	n/a
15	POLR2A	chr4:100867247-100869314	K562	blood:	n/a	n/a
16	PAX5	chr4:100867296-100868233	GM12892	blood:	n/a	n/a
17	MAZ	chr4:100867014-100868331	HepG2	liver:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
18	POLR2A	chr4:100867361-100869261	GM12892	blood:	n/a	n/a
19	RUNX3	chr4:100867036-100868813	GM12878	blood:	n/a	n/a
20	TRIM28	chr4:100867530-100869152	K562	blood:	n/a	n/a
21	POLR2A	chr4:100867156-100868713	ProgFib	skin:	n/a	n/a
22	POLR2A	chr4:100867542-100868203	A549	lung:	n/a	n/a
23	POLR2A	chr4:100867455-100869237	PFSK-1	brain:	n/a	n/a
24	GATA2	chr4:100866919-100868151	SH-SY5Y	brain:	n/a	chr4:100867566-100867576 chr4:100867999-100868006 chr4:100866923-100866930
25	UBTF	chr4:100867252-100868364	K562	blood:	n/a	n/a
26	POLR2A	chr4:100867543-100869155	K562	blood:	n/a	n/a
27	ELF1	chr4:100867057-100868836	GM12878	blood:	n/a	chr4:100867411-100867423 chr4:100867351-100867363 chr4:100868306-100868315 chr4:100868305-100868316
28	MYC	chr4:100866924-100868436	NB4	blood:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
29	CREB1	chr4:100867544-100868373	A549	lung:	n/a	n/a
30	POLR2A	chr4:100867062-100869317	H1-hESC	embryonic stem cell:	n/a	n/a
31	PAX5	chr4:100867469-100868006	GM12878	blood:	n/a	n/a
32	UBTF	chr4:100867084-100868631	K562	blood:	n/a	n/a
33	POLR2A	chr4:100867427-100868846	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr4:100867181-100868655	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr4:100867156-100869393	K562	blood:	n/a	n/a
36	POLR2A	chr4:100867376-100868722	HUVEC	blood vessel:	n/a	n/a
37	MAX	chr4:100867235-100868419	GM12878	blood:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
38	HA-E2F1	chr4:100867140-100868388	MCF-7	breast:	n/a	n/a
39	POLR2A	chr4:100867264-100869550	PFSK-1	brain:	n/a	n/a
40	NFATC1	chr4:100867540-100869025	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:100867205-100869132	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:100867159-100868628	GM12878	blood:	n/a	n/a
43	MAX	chr4:100867530-100868491	SK-N-SH	brain:	n/a	n/a
44	WRNIP1	chr4:100866979-100867576	GM12878	blood:	n/a	n/a
45	PML	chr4:100867084-100869044	GM12878	blood:	n/a	chr4:100867376-100867384
46	BHLHE40	chr4:100867501-100868372	HepG2	liver:	n/a	n/a
47	MTA3	chr4:100867045-100869185	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:100867519-100867849	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:100867417-100868453	MCF-7	breast:	n/a	n/a
50	MYC	chr4:100867017-100868408	K562	blood:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498

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	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
11	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:

Variant related genes	Relation type
ENSG00000245322	TF binding region
ENSG00000120697	Chromatin interaction
ENSG00000120699	Chromatin interaction
ENSG00000070190	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000109270	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	chr4:100866200-100867600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr4:100866200-100868000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:100866200-100868000	Active TSS	Brain Germinal Matrix	brain
14	chr4:100866200-100868200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:100866200-100868200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:100866200-100868200	Active TSS	HSMM	muscle
17	chr4:100866200-100868200	Active TSS	NHDF-Ad	bronchial
18	chr4:100866200-100868400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:100866200-100868400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr4:100866200-100868400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr4:100866400-100867600	Active TSS	Right Atrium	heart
22	chr4:100866400-100868000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:100866400-100868000	Active TSS	HMEC	breast
24	chr4:100866400-100868200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:100866400-100868400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:100866400-100868600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:100866600-100868000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:100866600-100868000	Active TSS	Colonic Mucosa	Colon
29	chr4:100866600-100868200	Active TSS	Placenta	Placenta
30	chr4:100866600-100868200	Active TSS	Stomach Mucosa	stomach
31	chr4:100866600-100868400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr4:100866600-100868400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:100866600-100868400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:100866600-100868400	Active TSS	Ovary	ovary
35	chr4:100866600-100868600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:100866600-100868600	Active TSS	Psoas Muscle	Psoas
37	chr4:100866800-100868000	Active TSS	Primary T cells fromperipheralblood	blood
38	chr4:100866800-100868000	Active TSS	Fetal Muscle Trunk	muscle
39	chr4:100866800-100868200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:100866800-100868200	Active TSS	Muscle Satellite Cultured Cells	--
41	chr4:100866800-100868200	Active TSS	Fetal Brain Female	brain
42	chr4:100866800-100868200	Active TSS	Fetal Intestine Small	intestine
43	chr4:100866800-100868200	Active TSS	Fetal Muscle Leg	muscle
44	chr4:100866800-100868200	Active TSS	Fetal Stomach	stomach
45	chr4:100866800-100868200	Active TSS	Fetal Thymus	thymus
46	chr4:100866800-100868400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:100866800-100868400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:100866800-100868400	Active TSS	Fetal Intestine Large	intestine
49	chr4:100866800-100868400	Active TSS	Left Ventricle	heart
50	chr4:100866800-100868400	Active TSS	Sigmoid Colon	Sigmoid Colon

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