Variant report

Variant	rs577386577
Chromosome Location	chr6:80657639-80657640
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	SIN3A	chr6:80656049-80657798	H1-hESC	embryonic stem cell:	n/a	chr6:80656790-80656801 chr6:80656822-80656831 chr6:80657273-80657286 chr6:80657516-80657529 chr6:80657008-80657017
2	USF1	chr6:80656591-80657717	SK-N-SH	brain:	n/a	chr6:80656753-80656769 chr6:80657011-80657027 chr6:80657307-80657318 chr6:80656815-80656831
3	POLR2A	chr6:80655958-80657860	H1-neurons	neurons:	n/a	n/a
4	EGR1	chr6:80656989-80657671	MCF-7	breast:	n/a	chr6:80657322-80657336 chr6:80657429-80657438
5	BACH1	chr6:80657510-80657774	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:80656836-80657828	SK-N-MC	brain:	n/a	n/a
7	EGR1	chr6:80657000-80657657	ECC-1	luminal epithelium:	n/a	chr6:80657322-80657336 chr6:80657429-80657438
8	CTBP2	chr6:80656206-80657733	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:80656013-80657852	H1-neurons	neurons:	n/a	n/a
10	USF1	chr6:80656964-80657642	ECC-1	luminal epithelium:	n/a	chr6:80657011-80657027 chr6:80657307-80657318
11	TAF1	chr6:80656450-80657762	H1-neurons	neurons:	n/a	n/a
12	HDAC2	chr6:80657364-80657802	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr6:80656984-80657750	ECC-1	luminal epithelium:	n/a	n/a
14	KAP1	chr6:80657389-80657991	HEK293	kidney:	n/a	n/a
15	MXI1	chr6:80656919-80658234	IMR90	lung:	n/a	n/a
16	MXI1	chr6:80657090-80657869	H1-hESC	embryonic stem cell:	n/a	n/a
17	GTF2F1	chr6:80657122-80657717	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr6:80657035-80657766	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr6:80656422-80657701	SK-N-SH	brain:	n/a	n/a
20	E2F6	chr6:80656690-80657999	H1-hESC	embryonic stem cell:	n/a	chr6:80657279-80657289 chr6:80657153-80657162 chr6:80657151-80657161 chr6:80656753-80656762 chr6:80657429-80657438
21	REST	chr6:80655877-80657936	H1-neurons	neurons:	n/a	chr6:80657244-80657262 chr6:80657516-80657529 chr6:80656573-80656586 chr6:80656821-80656831
22	CREB1	chr6:80657019-80657708	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr6:80657183-80657755	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr6:80656980-80657732	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr6:80656899-80657641	MCF-7	breast:	n/a	n/a
26	SETDB1	chr6:80657305-80657945	U2OS	brain:	n/a	chr6:80657429-80657438
27	POLR2A	chr6:80656936-80657659	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:80656936-80657647	HEK293	kidney:	n/a	n/a
29	USF2	chr6:80657112-80657677	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr6:80656518-80657955	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr6:80656963-80657649	ECC-1	luminal epithelium:	n/a	n/a
32	TBP	chr6:80656997-80657709	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr6:80656918-80657763	MCF-7	breast:	n/a	n/a
34	EP300	chr6:80656445-80657656	SK-N-SH	brain:	n/a	chr6:80656816-80656832 chr6:80657108-80657117 chr6:80656585-80656601 chr6:80657008-80657024 chr6:80656815-80656831 chr6:80657269-80657285 chr6:80656638-80656654 chr6:80656753-80656762
35	POLR2A	chr6:80656789-80657673	MCF-7	breast:	n/a	n/a
36	MAX	chr6:80656908-80657890	MCF-7	breast:	n/a	n/a
37	MAX	chr6:80656974-80657702	A549	lung:	n/a	n/a
38	TAF1	chr6:80656778-80657664	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr6:80657124-80657831	HUVEC	blood vessel:	n/a	n/a
40	MAX	chr6:80656842-80657910	H1-hESC	embryonic stem cell:	n/a	n/a
41	HA-E2F1	chr6:80656685-80657836	MCF-7	breast:	n/a	chr6:80657279-80657289 chr6:80657153-80657162 chr6:80657151-80657161 chr6:80656753-80656762 chr6:80657429-80657438
42	TCF12	chr6:80656966-80657716	ECC-1	luminal epithelium:	n/a	chr6:80657460-80657467
43	NRF1	chr6:80656490-80657994	SK-N-SH	brain:	n/a	chr6:80657428-80657439 chr6:80657428-80657442 chr6:80657425-80657439 chr6:80657428-80657437 chr6:80657183-80657190 chr6:80656796-80656805
44	MAZ	chr6:80656079-80658066	IMR90	lung:	n/a	n/a
45	MAX	chr6:80656935-80657974	H1-hESC	embryonic stem cell:	n/a	n/a
46	E2F6	chr6:80656988-80657932	H1-hESC	embryonic stem cell:	n/a	chr6:80657279-80657289 chr6:80657153-80657162 chr6:80657151-80657161 chr6:80657429-80657438
47	MAX	chr6:80657135-80657898	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr6:80656974-80657908	ECC-1	luminal epithelium:	n/a	n/a
49	ZNF263	chr6:80656077-80657816	HEK293-T-REx	kidney:	n/a	chr6:80656531-80656552 chr6:80656477-80656486 chr6:80656473-80656482
50	POLR2A	chr6:80656813-80657713	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80656144..80658220-chr6:80712686..80714230,2	K562	blood:
2	chr1:149858428..149860800-chr6:80655814..80658112,2	MCF-7	breast:

Variant related genes	Relation type
ELOVL4	TF binding region
ENSG00000112742	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3475140	chr6:80592690-80679283	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3475142	chr6:80592789-80679132	Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv933704	chr6:80657182-80674202	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80654800-80657800	Active TSS	Brain Angular Gyrus	brain
2	chr6:80655600-80659400	Active TSS	Thymus	Thymus
3	chr6:80655800-80657800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:80655800-80657800	Active TSS	Stomach Smooth Muscle	stomach
5	chr6:80655800-80658000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:80656000-80657800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr6:80656000-80657800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:80656000-80657800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:80656000-80657800	Active TSS	Aorta	Aorta
10	chr6:80656000-80657800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:80656000-80658000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:80656200-80657800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:80656200-80657800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:80656200-80657800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr6:80656200-80657800	Enhancers	Spleen	Spleen
16	chr6:80656200-80658000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:80656400-80657800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr6:80656400-80657800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
19	chr6:80656600-80657800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
20	chr6:80656600-80657800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr6:80656800-80657800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr6:80656800-80658000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr6:80657000-80657800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr6:80657000-80657800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:80657000-80657800	Active TSS	Fetal Brain Female	brain
26	chr6:80657000-80657800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
27	chr6:80657000-80658000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr6:80657200-80657800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:80657400-80657800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:80657400-80657800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr6:80657400-80657800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr6:80657400-80657800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:80657400-80657800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:80657400-80657800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:80657400-80657800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:80657400-80657800	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr6:80657400-80657800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
38	chr6:80657400-80657800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr6:80657400-80657800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
40	chr6:80657400-80657800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr6:80657400-80657800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr6:80657400-80657800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr6:80657400-80657800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
44	chr6:80657400-80657800	Flanking Active TSS	HMEC	breast
45	chr6:80657400-80657800	Flanking Active TSS	Osteobl	bone
46	chr6:80657400-80658000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr6:80657400-80658000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:80657400-80658000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr6:80657400-80658000	Flanking Active TSS	Dnd41	blood
50	chr6:80657600-80657800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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