Variant report

Variant	rs369011921
Chromosome Location	chr4:2964878-2964879
allele	C/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	MYC	chr4:2964627-2965369	HUVEC	blood vessel:	n/a	chr4:2965246-2965255
2	MAX	chr4:2964486-2965973	MCF-7	breast:	n/a	chr4:2965876-2965886 chr4:2965246-2965255
3	USF1	chr4:2964840-2965543	SK-N-SH	brain:	n/a	chr4:2965049-2965065
4	MXI1	chr4:2964181-2965562	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr4:2964824-2965525	SK-N-SH	brain:	n/a	chr4:2965492-2965501
6	YY1	chr4:2964681-2965388	H1-hESC	embryonic stem cell:	n/a	chr4:2965311-2965320 chr4:2965305-2965319 chr4:2965055-2965066 chr4:2965308-2965317 chr4:2965252-2965261
7	POLR2A	chr4:2964790-2965285	SK-N-MC	brain:	n/a	n/a
8	CREB1	chr4:2964414-2965875	HepG2	liver:	n/a	n/a
9	MAX	chr4:2964512-2965880	K562	blood:	n/a	chr4:2965246-2965255
10	ZMIZ1	chr4:2964828-2965501	K562	blood:	n/a	n/a
11	POLR2A	chr4:2964647-2964894	A549	lung:	n/a	n/a
12	TCF7L2	chr4:2964390-2965769	HCT-116	colon:	n/a	n/a
13	POLR2A	chr4:2964479-2966046	MCF-7	breast:	n/a	n/a
14	HDAC2	chr4:2964336-2965832	HepG2	liver:	n/a	chr4:2965475-2965484
15	POLR2A	chr4:2964496-2965592	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr4:2964555-2965848	GM18526	blood:	n/a	n/a
17	POLR2A	chr4:2964557-2965566	K562	blood:	n/a	n/a
18	CHD1	chr4:2964735-2965286	GM12878	blood:	n/a	chr4:2965143-2965152
19	UBTF	chr4:2963139-2966263	K562	blood:	n/a	n/a
20	POLR2A	chr4:2964403-2965983	H1-neurons	neurons:	n/a	n/a
21	GTF2F1	chr4:2964448-2965327	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZBTB7A	chr4:2964413-2964929	K562	blood:	n/a	n/a
23	POLR2A	chr4:2964591-2965770	HepG2	liver:	n/a	n/a
24	MAX	chr4:2963092-2966134	NB4	blood:	n/a	chr4:2965876-2965886 chr4:2965246-2965255
25	JUND	chr4:2964492-2965544	K562	blood:	n/a	n/a
26	PML	chr4:2963466-2965945	GM12878	blood:	n/a	n/a
27	MAZ	chr4:2964651-2965797	GM12878	blood:	n/a	chr4:2965246-2965255
28	ZBTB33	chr4:2964382-2965560	SK-N-SH	brain:	n/a	chr4:2965144-2965154 chr4:2965143-2965152 chr4:2964662-2964671 chr4:2965141-2965156 chr4:2965165-2965180
29	BRCA1	chr4:2964483-2965545	Hela-S3	cervix:	n/a	chr4:2965143-2965152 chr4:2965170-2965179
30	USF1	chr4:2964839-2965397	SK-N-SH	brain:	n/a	chr4:2965049-2965065
31	POLR2A	chr4:2964441-2965251	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr4:2964401-2965641	H1-hESC	embryonic stem cell:	n/a	n/a
33	GABPA	chr4:2964653-2965489	MCF-7	breast:	n/a	chr4:2965188-2965197
34	ATF2	chr4:2964828-2965324	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr4:2964407-2965960	ECC-1	luminal epithelium:	n/a	n/a
36	ZBTB33	chr4:2964359-2965615	A549	lung:	n/a	chr4:2965144-2965154 chr4:2965143-2965152 chr4:2964662-2964671 chr4:2965141-2965156 chr4:2965165-2965180
37	ZBTB7A	chr4:2964476-2965931	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr4:2964449-2965951	GM18505	blood:	n/a	n/a
39	POLR2A	chr4:2964476-2965264	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr4:2963047-2966632	MCF10A-Er-Src	breast:	n/a	n/a
41	BHLHE40	chr4:2964504-2965743	GM12878	blood:	n/a	chr4:2965049-2965065
42	BCLAF1	chr4:2964868-2965703	GM12878	blood:	n/a	chr4:2965252-2965265 chr4:2965188-2965201 chr4:2965309-2965318 chr4:2965291-2965299
43	ETS1	chr4:2964874-2965434	GM12878	blood:	n/a	chr4:2965228-2965241 chr4:2965130-2965141 chr4:2965232-2965239 chr4:2965227-2965240 chr4:2965291-2965304 chr4:2965143-2965152 chr4:2965290-2965303 chr4:2965125-2965142 chr4:2965128-2965142
44	YY1	chr4:2964561-2965880	ECC-1	luminal epithelium:	n/a	chr4:2964581-2964590 chr4:2965525-2965536 chr4:2965858-2965872 chr4:2965311-2965320 chr4:2965305-2965319 chr4:2965055-2965066 chr4:2965560-2965574 chr4:2965308-2965317 chr4:2965451-2965462 chr4:2965252-2965261
45	CTCF	chr4:2964878-2965393	H1-hESC	embryonic stem cell:	n/a	n/a
46	TCF3	chr4:2964752-2965781	GM12878	blood:	n/a	chr4:2965531-2965544
47	MYBL2	chr4:2964759-2965551	HepG2	liver:	n/a	n/a
48	E2F6	chr4:2964500-2966001	K562	blood:	n/a	chr4:2965188-2965197 chr4:2965861-2965871
49	KAP1	chr4:2964639-2965362	HEK293	kidney:	n/a	n/a
50	POLR2A	chr4:2964420-2965515	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:2964838-2964888	U87	brain:	n/a
2	chr4:2964838-2964888	GM12878	blood:	n/a
3	chr4:2964838-2964888	PFSK-1	brain:	n/a
4	chr4:2964838-2964888	AG09319	gingival:	n/a
5	chr4:2964838-2964888	HNPCEpiC	eye:	n/a
6	chr4:2964838-2964888	Hela-S3	cervix:	n/a
7	chr4:2964838-2964888	HPAEpiC	pulmonary alveolar:	n/a
8	chr4:2964838-2964888	HCPEpiC	choroid plexus:	n/a
9	chr4:2964838-2964888	NHBE	bronchial:	n/a
10	chr4:2964838-2964888	SAEC	small airway:	n/a
11	chr4:2964838-2964888	BE2_C	brain:	n/a
12	chr4:2964838-2964888	CMK	blood:	n/a
13	chr4:2964838-2964888	K562	blood:	n/a
14	chr4:2964838-2964888	NB4	blood:	n/a
15	chr4:2964838-2964888	HIPEpiC	eye:	n/a
16	chr4:2964838-2964888	HAEpiC	amniotic membrane:	n/a
17	chr4:2964838-2964888	Caco-2	colon:	n/a
18	chr4:2964838-2964888	SK-N-MC	brain:	n/a
19	chr4:2964838-2964888	HUVEC	blood vessel:	n/a
20	chr4:2964838-2964888	AG04450	lung:	fetal
21	chr4:2964838-2964888	AoSMC	blood vessel:	n/a
22	chr4:2964838-2964888	NHDF-neo	bronchial:	n/a
23	chr4:2964838-2964888	ovcar-3	ovarian:	n/a
24	chr4:2964838-2964888	Hepatocyte	liver:	n/a
25	chr4:2964838-2964888	LNCaP	prostate:	n/a
26	chr4:2964838-2964888	MCF-7	breast:	n/a
27	chr4:2964838-2964888	HRCEpiC	kidney:	n/a
28	chr4:2964838-2964888	NT2-D1	testis:	n/a
29	chr4:2964838-2964888	HRE	kidney:	n/a
30	chr4:2964838-2964888	AG09309	skin:	n/a
31	chr4:2964838-2964888	H1-hESC	embryonic stem cell:	embryo
32	chr4:2964838-2964888	NH-A	brain:	n/a
33	chr4:2964838-2964888	MCF10A-Er-Src	breast:	n/a
34	chr4:2964838-2964888	HL-60	blood:	n/a
35	chr4:2964838-2964888	HMEC	breast:	n/a
36	chr4:2964838-2964888	PrEC	prostate:	n/a
37	chr4:2964838-2964888	PANC-1	pancreas:	n/a
38	chr4:2964838-2964888	T-47D	breast:	n/a
39	chr4:2964838-2964888	HepG2	liver:	n/a
40	chr4:2964838-2964888	IMR90	lung:	fetal
41	chr4:2964838-2964888	Jurkat	blood:	n/a
42	chr4:2964838-2964888	HEK293	kidney:	embryo
43	chr4:2964838-2964888	HEEpiC	esophagus:	n/a
44	chr4:2964838-2964888	HCF	heart:	n/a
45	chr4:2964838-2964888	HRPEpiC	eye:	n/a
46	chr4:2964838-2964888	GM19239	blood:	n/a
47	chr4:2964838-2964888	GM12892	blood:	n/a
48	chr4:2964838-2964888	HCM	heart:	n/a
49	chr4:2964838-2964888	SK-N-SH	brain:	n/a
50	chr4:2964838-2964888	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr4:2935142..2937747-chr4:2962615..2966345,4	MCF-7	breast:
2	chr4:2964356..2966158-chr4:3074837..3077632,2	K562	blood:
3	chr4:1857657..1859808-chr4:2963800..2965708,2	MCF-7	breast:
4	chr4:2756517..2759780-chr4:2963075..2966456,5	K562	blood:
5	chr4:2916201..2917764-chr4:2963610..2965346,2	K562	blood:
6	chr4:2964631..2965442-chr8:125486338..125486843,2	Hela-S3	cervix:
7	chr4:2936328..2940860-chr4:2961848..2966602,8	K562	blood:
8	chr3:101567965..101568846-chr4:2964649..2965572,2	NB4	blood:
9	chr4:2963409..2964972-chr4:2976613..2978274,2	MCF-7	breast:
10	chr4:2756517..2759604-chr4:2963075..2966301,5	K562	blood:
11	chr4:2963799..2967429-chr4:2967585..2973552,6	K562	blood:
12	chr4:2845175..2847151-chr4:2963481..2966387,2	MCF-7	breast:

Variant related genes	Relation type
GRK4	TF binding region
GRK4	CpG island
ENSG00000168924	Chromatin interaction
ENSG00000251075	Chromatin interaction
ENSG00000197386	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000125388	Chromatin interaction
ENSG00000087274	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1008527	chr4:2957814-3019042	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1014013	chr4:2959876-3009507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv536999	chr4:2959876-3009507	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv878453	chr4:2963222-3021383	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1008781	chr4:2964080-3019042	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv1003528	chr4:2964261-3011568	Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv537000	chr4:2964261-3011568	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	esv3406626	chr4:2964379-2966927	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 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	chr4:2963000-2965200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:2963000-2965400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:2963000-2966400	Active TSS	Psoas Muscle	Psoas
4	chr4:2963200-2965000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr4:2963200-2965000	Flanking Active TSS	Placenta	Placenta
6	chr4:2963200-2965000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr4:2963200-2965200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:2963200-2965800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:2963200-2966000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:2963200-2966200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:2963200-2966800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:2963400-2965000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr4:2963400-2965800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr4:2963400-2966000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:2963400-2966400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr4:2963600-2965000	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr4:2963600-2965800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:2963600-2965800	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr4:2963600-2966000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:2963600-2966200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:2963600-2966400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:2963800-2965000	Active TSS	Right Atrium	heart
23	chr4:2963800-2965800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:2963800-2966000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:2963800-2966000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr4:2963800-2966000	Active TSS	Esophagus	oesophagus
27	chr4:2963800-2966000	Active TSS	Fetal Intestine Large	intestine
28	chr4:2963800-2966000	Active TSS	Gastric	stomach
29	chr4:2963800-2966000	Active TSS	GM12878-XiMat	blood
30	chr4:2963800-2966000	Active TSS	HepG2	liver
31	chr4:2963800-2966200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:2963800-2966200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:2963800-2966200	Active TSS	HMEC	breast
34	chr4:2963800-2966200	Active TSS	NHDF-Ad	bronchial
35	chr4:2963800-2966400	Active TSS	Fetal Kidney	kidney
36	chr4:2964000-2965000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:2964000-2965000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr4:2964000-2965000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr4:2964000-2965000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr4:2964000-2965000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:2964000-2965800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr4:2964000-2965800	Active TSS	Fetal Muscle Trunk	muscle
43	chr4:2964000-2966000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:2964000-2966000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:2964000-2966000	Active TSS	Small Intestine	intestine
46	chr4:2964000-2966000	Active TSS	K562	blood
47	chr4:2964000-2966000	Active TSS	NHLF	lung
48	chr4:2964000-2966200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:2964000-2966400	Active TSS	Ovary	ovary
50	chr4:2964000-2966400	Active TSS	A549	lung

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