Variant report

Variant	rs78993679
Chromosome Location	chr6:74230135-74230136
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	CREB1	chr6:74229772-74231695	K562	blood:	n/a	chr6:74231556-74231569
2	POLR2A	chr6:74227757-74231735	U87	brain:	n/a	n/a
3	YY1	chr6:74229744-74231727	ECC-1	luminal epithelium:	n/a	chr6:74230146-74230154 chr6:74230148-74230156 chr6:74230109-74230119 chr6:74230282-74230296 chr6:74230145-74230155 chr6:74230145-74230167 chr6:74230511-74230525
4	POLR2A	chr6:74222813-74231001	GM12891	blood:	n/a	n/a
5	YY1	chr6:74229802-74231651	H1-hESC	embryonic stem cell:	n/a	chr6:74230146-74230154 chr6:74230148-74230156 chr6:74230109-74230119 chr6:74230282-74230296 chr6:74230145-74230155 chr6:74230145-74230167 chr6:74230511-74230525
6	SIN3AK20	chr6:74229755-74230149	A549	lung:	n/a	n/a
7	REST	chr6:74229777-74231643	HL-60	blood:	n/a	chr6:74230129-74230142 chr6:74230240-74230253
8	RCOR1	chr6:74229861-74231975	K562	blood:	n/a	n/a
9	RCOR1	chr6:74229889-74231677	K562	blood:	n/a	n/a
10	POLR2A	chr6:74227580-74231982	MCF10A-Er-Src	breast:	n/a	n/a
11	ELF1	chr6:74229896-74231622	GM12878	blood:	n/a	chr6:74230510-74230522
12	BHLHE40	chr6:74229992-74231613	HepG2	liver:	n/a	chr6:74230508-74230524 chr6:74231107-74231123
13	RELA	chr6:74229260-74232316	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:74228816-74232047	HepG2	liver:	n/a	n/a
15	PML	chr6:74229072-74231655	K562	blood:	n/a	n/a
16	BCLAF1	chr6:74229173-74231221	K562	blood:	n/a	chr6:74231062-74231071 chr6:74229921-74229930 chr6:74230508-74230521 chr6:74230340-74230353
17	TEAD4	chr6:74229682-74231466	ECC-1	luminal epithelium:	n/a	n/a
18	GATA3	chr6:74229580-74231701	A549	lung:	n/a	n/a
19	BHLHE40	chr6:74229893-74232231	GM12878	blood:	n/a	chr6:74230508-74230524 chr6:74231107-74231123
20	YY1	chr6:74229784-74231677	K562	blood:	n/a	chr6:74230146-74230154 chr6:74230148-74230156 chr6:74230109-74230119 chr6:74230282-74230296 chr6:74230145-74230155 chr6:74230145-74230167 chr6:74230511-74230525
21	MAZ	chr6:74229755-74231968	GM12878	blood:	n/a	chr6:74230793-74230803 chr6:74231000-74231010 chr6:74230504-74230513
22	POLR2A	chr6:74227654-74232081	GM12892	blood:	n/a	n/a
23	E2F4	chr6:74229850-74231595	K562	blood:	n/a	chr6:74230292-74230302 chr6:74231002-74231014
24	CHD1	chr6:74228853-74232500	IMR90	lung:	n/a	chr6:74230887-74230897 chr6:74229942-74229952
25	NR2F2	chr6:74229697-74231884	K562	blood:	n/a	n/a
26	ZNF143	chr6:74229906-74231648	H1-hESC	embryonic stem cell:	n/a	chr6:74231121-74231139
27	POLR2A	chr6:74229040-74231763	ProgFib	skin:	n/a	n/a
28	USF2	chr6:74229821-74230988	GM12878	blood:	n/a	chr6:74230508-74230524
29	SMC3	chr6:74229753-74231988	Hela-S3	cervix:	n/a	chr6:74230493-74230500
30	POLR2A	chr6:74229895-74231564	MCF-7	breast:	n/a	n/a
31	CEBPB	chr6:74229743-74230231	K562	blood:	n/a	n/a
32	POLR2A	chr6:74227647-74232257	K562	blood:	n/a	n/a
33	NFATC1	chr6:74229158-74231176	GM12878	blood:	n/a	n/a
34	NFIC	chr6:74229922-74231672	HepG2	liver:	n/a	n/a
35	FOXP2	chr6:74229835-74230393	PFSK-1	brain:	n/a	n/a
36	CREB1	chr6:74229688-74231838	HepG2	liver:	n/a	chr6:74231556-74231569
37	EGR1	chr6:74229688-74230245	K562	blood:	n/a	chr6:74230157-74230167 chr6:74229903-74229918 chr6:74230156-74230169 chr6:74229899-74229921
38	MYC	chr6:74229920-74231207	MCF-7	breast:	n/a	chr6:74230793-74230803 chr6:74231000-74231010 chr6:74230504-74230513
39	MAX	chr6:74229743-74231746	SK-N-SH	brain:	n/a	chr6:74230793-74230803 chr6:74231000-74231010 chr6:74230504-74230513
40	POLR2A	chr6:74227799-74230907	A549	lung:	n/a	n/a
41	SIN3A	chr6:74229757-74231716	GM12878	blood:	n/a	chr6:74230994-74231005 chr6:74229998-74230011
42	NFIC	chr6:74229759-74231788	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:74229805-74230410	A549	lung:	n/a	n/a
44	BHLHE40	chr6:74229900-74231612	K562	blood:	n/a	chr6:74230508-74230524 chr6:74231107-74231123
45	CREB1	chr6:74230008-74230430	A549	lung:	n/a	n/a
46	ZNF143	chr6:74229889-74231464	Hela-S3	cervix:	n/a	chr6:74231121-74231139
47	POLR2A	chr6:74227716-74232005	HepG2	liver:	n/a	n/a
48	HCFC1	chr6:74229302-74232137	Hela-S3	cervix:	n/a	n/a
49	RELA	chr6:74229314-74231856	GM12892	blood:	n/a	n/a
50	FOS	chr6:74229877-74230169	MCF10A-Er-Src	breast:	n/a	chr6:74230074-74230086 chr6:74230074-74230085 chr6:74230076-74230085 chr6:74230075-74230084 chr6:74230075-74230085

No.	Distal block	Cell Line	Cell type
1	chr6:74228897..74233348-chr6:76310739..76313863,5	K562	blood:
2	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
3	chr6:74228067..74234767-chr6:74357105..74365312,16	MCF-7	breast:
4	chr1:210546830..210547647-chr6:74230041..74231000,3	Hela-S3	cervix:
5	chr17:2303572..2304405-chr6:74229766..74230545,2	Hela-S3	cervix:
6	chr12:95867489..95868146-chr6:74229925..74230752,2	HCT-116	colon:
7	chr6:74229352..74231539-chr6:75915151..75917818,2	MCF-7	breast:
8	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
9	chr1:154945706..154946890-chr6:74229999..74231163,5	Hela-S3	cervix:
10	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
11	chr17:42422412..42423047-chr6:74229797..74230960,4	Hela-S3	cervix:
12	chr6:74229955..74230681-chr7:5594286..5595068,2	Hela-S3	cervix:
13	chr5:175814751..175816394-chr6:74229187..74232142,2	MCF-7	breast:
14	chr6:74018617..74020402-chr6:74229038..74231578,2	K562	blood:
15	chr22:45559355..45561489-chr6:74229650..74231548,2	MCF-7	breast:
16	chr2:208489180..208490098-chr6:74229841..74231161,3	Hela-S3	cervix:
17	chr12:44199917..44200514-chr6:74230104..74230869,2	Hela-S3	cervix:
18	chr6:74228702..74232744-chr6:74360665..74366385,13	MCF-7	breast:
19	chr6:74229402..74231607-chr6:76310929..76313785,2	K562	blood:
20	chr6:74169192..74174230-chr6:74229143..74231785,9	K562	blood:
21	chr19:12900751..12902436-chr6:74228731..74231614,2	MCF-7	breast:
22	chr6:74230065..74230819-chr9:21559626..21560366,2	Hela-S3	cervix:
23	chr19:34662590..34663795-chr6:74229880..74230848,3	Hela-S3	cervix:
24	chr6:26216810..26217684-chr6:74230064..74230758,2	Hela-S3	cervix:
25	chr16:75271441..75274374-chr6:74228830..74231678,2	MCF-7	breast:
26	chr3:11227022..11227958-chr6:74229797..74230401,2	Hela-S3	cervix:
27	chr12:57081705..57082520-chr6:74230123..74230932,2	HCT-116	colon:
28	chr6:27112481..27114921-chr6:74229958..74232604,2	K562	blood:
29	chr20:26188395..26190565-chr6:74228700..74231505,2	MCF-7	breast:
30	chr6:26030908..26032458-chr6:74228984..74230943,2	K562	blood:
31	chr6:74229302..74231632-chr8:103666566..103668459,2	MCF-7	breast:
32	chr1:28879499..28880049-chr6:74230050..74230604,2	Hela-S3	cervix:
33	chr6:73972686..73974360-chr6:74230027..74232988,2	MCF-7	breast:
34	chr11:65625425..65626345-chr6:74230069..74230782,2	Hela-S3	cervix:
35	chr6:74229165..74233433-chr6:74353361..74356645,5	MCF-7	breast:
36	chr6:74229501..74230371-chr9:140135526..140136059,2	Hela-S3	cervix:
37	chr6:74170147..74173171-chr6:74228405..74233047,5	K562	blood:
38	chr5:65439633..65440513-chr6:74229999..74230902,2	Hela-S3	cervix:
39	chr6:74157393..74162572-chr6:74229200..74231801,6	MCF-7	breast:
40	chr6:74229587..74231112-chr6:79786854..79788389,2	K562	blood:
41	chr17:26970205..26972815-chr6:74228570..74230969,2	MCF-7	breast:
42	chr2:208394035..208394752-chr6:74229798..74230791,2	Hela-S3	cervix:
43	chr6:74229876..74230758-chr7:1199557..1200487,3	Hela-S3	cervix:
44	chr6:37400721..37403243-chr6:74228826..74231547,2	K562	blood:
45	chr1:45196383..45197081-chr6:74229952..74230832,2	Hela-S3	cervix:
46	chr3:143690723..143691617-chr6:74230015..74230752,2	Hela-S3	cervix:
47	chr6:74169360..74174580-chr6:74228668..74231530,6	MCF-7	breast:
48	chr5:130505946..130506922-chr6:74230010..74230731,2	HCT-116	colon:
49	chr6:74189673..74193242-chr6:74229143..74231708,4	MCF-7	breast:

Variant related genes	Relation type
EEF1A1	TF binding region
ENSG00000229862	TF binding region
ENSG00000263378	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000243501	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000218459	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000111142	Chromatin interaction
ENSG00000257103	Chromatin interaction
ENSG00000112701	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000048162	Chromatin interaction
ENSG00000178381	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000070444	Chromatin interaction
ENSG00000227195	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000135314	Chromatin interaction
ENSG00000007202	Chromatin interaction
ENSG00000207023	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000144401	Chromatin interaction
ENSG00000229852	Chromatin interaction
ENSG00000171889	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000181744	Chromatin interaction
ENSG00000223725	Chromatin interaction
ENSG00000137200	Chromatin interaction
ENSG00000146247	Chromatin interaction
ENSG00000118260	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000153914	Chromatin interaction
ENSG00000229043	Chromatin interaction
ENSG00000180098	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000111799	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000093000	Chromatin interaction
ENSG00000146066	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000186687	Chromatin interaction
ENSG00000030582	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000226328	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000168274	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
9	nsv5350	chr6:74221995-74267088	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
10	nsv886159	chr6:74223153-74275405	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
11	nsv463153	chr6:74229258-74290291	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
12	nsv603693	chr6:74229258-74290291	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 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	chr6:74224600-74230600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr6:74224800-74230600	Transcr. at gene 5' and 3'	A549	lung
3	chr6:74225000-74231600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:74225600-74230600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:74225800-74230600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:74226000-74230400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
7	chr6:74226000-74230600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:74226000-74230600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
9	chr6:74226000-74230800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
10	chr6:74226200-74230600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:74226400-74230200	Transcr. at gene 5' and 3'	Hela-S3	cervix
12	chr6:74226400-74230600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
13	chr6:74226400-74230600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
14	chr6:74226400-74230600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
15	chr6:74226400-74230600	Transcr. at gene 5' and 3'	NHEK	skin
16	chr6:74226400-74230800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:74226600-74230400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:74226600-74230400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:74226600-74230400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
20	chr6:74226800-74230800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
21	chr6:74227000-74230400	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:74227200-74232000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:74227600-74230200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
24	chr6:74227600-74230600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
25	chr6:74227600-74230800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:74227600-74230800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
27	chr6:74227800-74230400	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
28	chr6:74227800-74230600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:74227800-74230600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:74227800-74231800	Active TSS	Placenta Amnion	Placenta Amnion
31	chr6:74227800-74233800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:74228000-74230400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
33	chr6:74228000-74230800	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr6:74228000-74231800	Active TSS	Right Ventricle	heart
35	chr6:74228200-74230400	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:74228400-74230200	Transcr. at gene 5' and 3'	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:74228400-74230200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:74228400-74230200	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
39	chr6:74228400-74230600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:74228400-74230600	Transcr. at gene 5' and 3'	NHLF	lung
41	chr6:74228400-74230800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
42	chr6:74228400-74230800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:74228400-74231600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
44	chr6:74228600-74232000	Active TSS	Fetal Brain Female	brain
45	chr6:74228800-74231800	Active TSS	Esophagus	oesophagus
46	chr6:74229000-74230200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
47	chr6:74229000-74230200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
48	chr6:74229000-74230400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
49	chr6:74229000-74230600	Transcr. at gene 5' and 3'	Fetal Lung	lung
50	chr6:74229000-74231600	Active TSS	Gastric	stomach

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