Variant report

Variant	rs201376779
Chromosome Location	chr4:674386-674387
allele	C/T
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	chr4:674315-675186	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:674230-674911	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:673854-675276	H1-hESC	embryonic stem cell:	n/a	n/a
4	ELK1	chr4:674302-674495	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:674322-674923	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr4:674268-674514	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:674328-675210	GM12892	blood:	n/a	n/a
8	RUNX3	chr4:674212-674617	GM12878	blood:	n/a	n/a
9	STAT5A	chr4:673996-675279	GM12878	blood:	n/a	chr4:674963-674975 chr4:674402-674422 chr4:674428-674440
10	JUND	chr4:674360-674612	H1-hESC	embryonic stem cell:	n/a	n/a
11	ELF1	chr4:674182-675126	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:674322-675341	GM18505	blood:	n/a	n/a
13	ELF1	chr4:674201-675116	K562	blood:	n/a	n/a
14	POLR2A	chr4:674324-675397	K562	blood:	n/a	n/a
15	POLR2A	chr4:674291-674575	HUVEC	blood vessel:	n/a	n/a
16	EBF1	chr4:674312-674528	GM12878	blood:	n/a	n/a
17	POLR2A	chr4:674342-675980	HepG2	liver:	n/a	n/a
18	POLR2A	chr4:673862-675409	ECC-1	luminal epithelium:	n/a	n/a
19	JUND	chr4:674291-674577	K562	blood:	n/a	n/a
20	POLR2A	chr4:673884-675392	GM12878	blood:	n/a	n/a
21	CTBP2	chr4:674238-675244	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr4:666866-675998	K562	blood:	n/a	n/a
23	YY1	chr4:674332-674822	GM12892	blood:	n/a	chr4:674389-674403
24	POLR2A	chr4:667296-675255	MCF10A-Er-Src	breast:	n/a	n/a
25	MAX	chr4:674354-675428	K562	blood:	n/a	chr4:674966-674976
26	FOXM1	chr4:674358-674755	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:674144-674701	Hela-S3	cervix:	n/a	n/a
28	ELF1	chr4:674321-674556	K562	blood:	n/a	n/a
29	ELF1	chr4:674130-675256	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:674364-675467	GM15510	blood:	n/a	n/a
31	POLR2A	chr4:673904-675393	GM12878	blood:	n/a	n/a
32	MXI1	chr4:673955-675977	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr4:670676-675301	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr4:673890-675341	GM12878	blood:	n/a	n/a
35	MTA3	chr4:674184-675074	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:673985-675500	H1-hESC	embryonic stem cell:	n/a	n/a
37	PML	chr4:674385-675119	GM12878	blood:	n/a	n/a
38	SIN3A	chr4:674274-675300	H1-hESC	embryonic stem cell:	n/a	chr4:675031-675045
39	POLR2A	chr4:674356-674600	H1-hESC	embryonic stem cell:	n/a	n/a
40	RUNX3	chr4:674276-674583	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
2	chr4:658187..662144-chr4:672176..676426,5	MCF-7	breast:
3	chr4:671080..676330-chr4:771868..776883,7	K562	blood:

Variant related genes	Relation type
MYL5	TF binding region
ENSG00000249592	Chromatin interaction
ENSG00000185619	Chromatin interaction
ENSG00000133256	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	104 gene(s)	inside rSNPs	diseases
14	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv878248	chr4:645300-685993	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv878249	chr4:649639-691026	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv10413	chr4:667204-684301	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv593208	chr4:668000-682233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv878250	chr4:668567-683842	Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv878251	chr4:669857-683842	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv878252	chr4:669857-685993	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	esv3357523	chr4:674177-676725	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:668800-674400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:669200-674400	Weak transcription	Fetal Lung	lung
3	chr4:669400-674400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:669400-674400	Weak transcription	Ovary	ovary
5	chr4:669400-674400	Weak transcription	Right Atrium	heart
6	chr4:669400-674600	Enhancers	Placenta	Placenta
7	chr4:669400-674600	Weak transcription	HUVEC	blood vessel
8	chr4:669600-674400	Weak transcription	Primary T cells from cord blood	blood
9	chr4:669600-674400	Weak transcription	NHLF	lung
10	chr4:669600-674600	Weak transcription	Left Ventricle	heart
11	chr4:669600-674600	Weak transcription	Small Intestine	intestine
12	chr4:669800-674600	Weak transcription	Brain Anterior Caudate	brain
13	chr4:669800-674600	Weak transcription	Brain Substantia Nigra	brain
14	chr4:670000-674600	Weak transcription	Liver	Liver
15	chr4:670200-674400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:670200-674600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:670400-674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:670800-674600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:671200-674400	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr4:671200-674400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:672000-674400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:672000-674400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:672000-674400	Weak transcription	Psoas Muscle	Psoas
24	chr4:672000-674600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:672200-674400	Weak transcription	Gastric	stomach
26	chr4:672200-674600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:672400-674400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:672400-674400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:672400-674400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:672600-674400	Weak transcription	HMEC	breast
31	chr4:672600-674400	Weak transcription	HSMM	muscle
32	chr4:672600-674600	Weak transcription	NHEK	skin
33	chr4:673000-674400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:673000-674400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:673000-674400	Enhancers	Right Ventricle	heart
36	chr4:673000-674400	Enhancers	HepG2	liver
37	chr4:673000-674600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:673200-674600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:673200-675400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
40	chr4:673400-674400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr4:673600-677400	Enhancers	Spleen	Spleen
42	chr4:673800-674400	Enhancers	Primary B cells from peripheral blood	blood
43	chr4:673800-674400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr4:673800-674400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr4:673800-674800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr4:674000-674400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:674000-674400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:674000-674400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr4:674000-674400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:674000-674400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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