Variant report

Variant	rs386700132
Chromosome Location	chr6:35465835-35465836
allele	GG/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	chr6:35464891-35466484	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:35464485-35466025	MCF-7	breast:	n/a	n/a
3	BHLHE40	chr6:35464925-35466949	K562	blood:	n/a	chr6:35465324-35465340 chr6:35466465-35466481
4	CHD2	chr6:35464391-35466037	Hela-S3	cervix:	n/a	chr6:35465063-35465073 chr6:35465017-35465027 chr6:35465585-35465595 chr6:35465520-35465530
5	HDAC2	chr6:35465110-35466099	MCF-7	breast:	n/a	n/a
6	POLR2A	chr6:35463981-35466364	MCF-7	breast:	n/a	n/a
7	JUND	chr6:35465146-35466301	MCF-7	breast:	n/a	chr6:35465289-35465298
8	PML	chr6:35465516-35466225	K562	blood:	n/a	n/a
9	YY1	chr6:35464756-35466361	K562	blood:	n/a	chr6:35465488-35465499 chr6:35466253-35466267 chr6:35465119-35465133 chr6:35464964-35464973 chr6:35465339-35465353
10	E2F1	chr6:35464788-35465933	Hela-S3	cervix:	n/a	chr6:35465546-35465556
11	CHD2	chr6:35465634-35465895	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:35464907-35466790	K562	blood:	n/a	n/a
13	POLR2A	chr6:35464904-35466528	Hela-S3	cervix:	n/a	n/a
14	ZBTB7A	chr6:35463832-35466076	ECC-1	luminal epithelium:	n/a	chr6:35465457-35465465 chr6:35464366-35464377
15	TEAD4	chr6:35465429-35466054	K562	blood:	n/a	n/a
16	EP300	chr6:35465761-35465877	K562	blood:	n/a	n/a
17	REST	chr6:35465440-35465942	K562	blood:	n/a	chr6:35465480-35465487
18	E2F6	chr6:35464871-35465875	K562	blood:	n/a	chr6:35465546-35465556
19	TCF12	chr6:35465558-35466063	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr6:35464839-35465988	A549	lung:	n/a	chr6:35465374-35465383 chr6:35464965-35464975
21	MAX	chr6:35465030-35466050	MCF-7	breast:	n/a	chr6:35465374-35465383
22	CTCF	chr6:35465700-35465850	HCM	heart:	n/a	n/a
23	TCF3	chr6:35465744-35465997	GM12878	blood:	n/a	n/a
24	E2F6	chr6:35464828-35466734	K562	blood:	n/a	chr6:35465546-35465556
25	GABPA	chr6:35465534-35466077	H1-hESC	embryonic stem cell:	n/a	n/a
26	RCOR1	chr6:35464964-35466052	K562	blood:	n/a	n/a
27	MYC	chr6:35465526-35466613	K562	blood:	n/a	chr6:35466408-35466421 chr6:35466413-35466421 chr6:35466410-35466419 chr6:35466410-35466419 chr6:35466409-35466420 chr6:35466410-35466419 chr6:35466408-35466421 chr6:35466410-35466420 chr6:35466405-35466424 chr6:35466410-35466420 chr6:35466409-35466420 chr6:35466408-35466421 chr6:35466409-35466420
28	MAZ	chr6:35463616-35466603	K562	blood:	n/a	chr6:35466408-35466421 chr6:35466413-35466421 chr6:35466410-35466419 chr6:35465374-35465383 chr6:35466410-35466419 chr6:35466409-35466420 chr6:35466410-35466419 chr6:35466408-35466421 chr6:35464965-35464975 chr6:35466410-35466420 chr6:35466405-35466424 chr6:35466410-35466420 chr6:35466409-35466420 chr6:35466408-35466421 chr6:35464473-35464483 chr6:35466409-35466420
29	POLR2A	chr6:35465558-35468992	K562	blood:	n/a	n/a
30	FOS	chr6:35465650-35465947	HUVEC	blood vessel:	n/a	n/a
31	MYC	chr6:35464886-35466773	K562	blood:	n/a	chr6:35466408-35466421 chr6:35466413-35466421 chr6:35466410-35466419 chr6:35465374-35465383 chr6:35466410-35466419 chr6:35466409-35466420 chr6:35466410-35466419 chr6:35466408-35466421 chr6:35464965-35464975 chr6:35466410-35466420 chr6:35466405-35466424 chr6:35466410-35466420 chr6:35466409-35466420 chr6:35466408-35466421 chr6:35466409-35466420
32	RCOR1	chr6:35464987-35466091	Hela-S3	cervix:	n/a	n/a
33	GTF2F1	chr6:35465621-35465977	Hela-S3	cervix:	n/a	n/a
34	MAX	chr6:35465427-35466609	NB4	blood:	n/a	chr6:35466408-35466421 chr6:35466413-35466421 chr6:35466410-35466419 chr6:35466410-35466419 chr6:35466409-35466420 chr6:35466410-35466419 chr6:35466408-35466421 chr6:35466410-35466420 chr6:35466405-35466424 chr6:35466410-35466420 chr6:35466409-35466420 chr6:35466408-35466421 chr6:35466409-35466420
35	HA-E2F1	chr6:35464761-35465943	Hela-S3	cervix:	n/a	chr6:35465546-35465556
36	MAZ	chr6:35465583-35465923	GM12878	blood:	n/a	n/a
37	HDAC2	chr6:35465376-35465978	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr6:35465367-35465982	A549	lung:	n/a	chr6:35465374-35465383
39	JUND	chr6:35465682-35465860	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr6:35465401-35465982	H1-hESC	embryonic stem cell:	n/a	n/a
41	SPI1	chr6:35465547-35466026	HL-60	blood:	n/a	n/a
42	SETDB1	chr6:35465029-35466382	K562	blood:	n/a	chr6:35465622-35465631
43	FOXP2	chr6:35465453-35466193	PFSK-1	brain:	n/a	n/a
44	CHD1	chr6:35465591-35466082	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr6:35464566-35466604	Hela-S3	cervix:	n/a	chr6:35466408-35466421 chr6:35466413-35466421 chr6:35466410-35466419 chr6:35465374-35465383 chr6:35466410-35466419 chr6:35466409-35466420 chr6:35466410-35466419 chr6:35466408-35466421 chr6:35464965-35464975 chr6:35466410-35466420 chr6:35466405-35466424 chr6:35466410-35466420 chr6:35466409-35466420 chr6:35466408-35466421 chr6:35466409-35466420
46	POLR2A	chr6:35464916-35465893	HCT-116	colon:	n/a	n/a
47	RAD21	chr6:35465405-35466297	H1-hESC	embryonic stem cell:	n/a	chr6:35466246-35466258
48	TAF1	chr6:35465549-35466007	K562	blood:	n/a	n/a
49	BACH1	chr6:35465018-35466097	H1-hESC	embryonic stem cell:	n/a	n/a
50	SPI1	chr6:35465691-35465886	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35423795..35426623-chr6:35465037..35468781,3	K562	blood:
2	chr6:35260813..35263112-chr6:35464822..35466518,2	K562	blood:
3	chr6:35270724..35273111-chr6:35465041..35467348,2	K562	blood:
4	chr6:35419956..35422517-chr6:35464991..35466898,2	MCF-7	breast:
5	chr6:35465446..35468035-chr6:35607430..35610345,2	K562	blood:
6	chr6:35465223..35467694-chr6:35696445..35698937,2	K562	blood:
7	chr6:35225785..35227535-chr6:35464894..35467017,2	K562	blood:
8	chr6:35465082..35466862-chr6:35699908..35701462,2	MCF-7	breast:
9	chr1:153699734..153700587-chr6:35465219..35465916,2	Hela-S3	cervix:
10	chr6:35264944..35267460-chr6:35465302..35468823,3	MCF-7	breast:
11	chr6:35464312..35466499-chr6:35694204..35696742,2	MCF-7	breast:
12	chr5:130531404..130532060-chr6:35465194..35466059,2	Hela-S3	cervix:
13	chr6:35464601..35467910-chr6:35655207..35659461,3	K562	blood:
14	chr19:11198114..11200950-chr6:35464173..35466447,2	K562	blood:
15	chr6:35376688..35379327-chr6:35465068..35467470,3	K562	blood:
16	chr6:35289938..35291662-chr6:35465459..35467668,2	K562	blood:
17	chr6:35310112..35312932-chr6:35464368..35466518,2	K562	blood:
18	chr6:35227208..35228940-chr6:35464081..35465836,2	K562	blood:
19	chr6:35464241..35466956-chr6:35695881..35700309,4	MCF-7	breast:
20	chr1:210547375..210547960-chr6:35465386..35466203,2	Hela-S3	cervix:
21	chr2:176033099..176033744-chr6:35465562..35466338,2	Hela-S3	cervix:
22	chr6:35465054..35467000-chr6:36192851..36194879,2	MCF-7	breast:
23	chr6:35418643..35423313-chr6:35462563..35468017,10	K562	blood:
24	chr6:35263661..35265616-chr6:35463054..35466039,2	MCF-7	breast:
25	chr6:35465083..35467815-chr6:35613967..35615894,2	MCF-7	breast:
26	chr11:33757381..33758237-chr6:35465059..35466295,3	Hela-S3	cervix:
27	chr6:35465758..35466302-chr9:35603362..35604311,2	Hela-S3	cervix:

Variant related genes	Relation type
TEAD3	TF binding region
ENSG00000096060	Chromatin interaction
ENSG00000112039	Chromatin interaction
ENSG00000130164	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000115966	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000112033	Chromatin interaction
ENSG00000023892	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000143624	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	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
2	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases
3	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
5	esv3384067	chr6:35462874-35466272	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	esv3507609	chr6:35463474-35466122	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	esv3507610	chr6:35463474-35466122	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	esv3440600	chr6:35463499-35466347	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	esv3323555	chr6:35464074-35465922	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
12	esv1820663	chr6:35464197-35471362	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35463200-35466000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:35463200-35466200	Active TSS	Fetal Kidney	kidney
3	chr6:35463400-35466000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:35463600-35466000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:35463600-35466000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:35463600-35466000	Active TSS	Colon Smooth Muscle	Colon
7	chr6:35463600-35466000	Active TSS	Esophagus	oesophagus
8	chr6:35463600-35466000	Active TSS	Ovary	ovary
9	chr6:35463600-35466000	Active TSS	A549	lung
10	chr6:35463600-35466000	Active TSS	NHLF	lung
11	chr6:35463600-35466200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:35463600-35466200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:35463600-35466200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:35463600-35466200	Active TSS	Aorta	Aorta
15	chr6:35463600-35466200	Active TSS	Placenta Amnion	Placenta Amnion
16	chr6:35463600-35466200	Active TSS	Rectal Smooth Muscle	rectum
17	chr6:35463600-35466200	Active TSS	HSMMtube	muscle
18	chr6:35463600-35466800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:35463800-35466000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:35463800-35466000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:35463800-35466000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:35463800-35466000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:35463800-35466000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:35463800-35466000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:35463800-35466000	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr6:35463800-35466000	Active TSS	NHDF-Ad	bronchial
27	chr6:35463800-35466400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:35463800-35466400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:35464000-35466000	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr6:35464000-35466000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:35464000-35466000	Active TSS	Psoas Muscle	Psoas
32	chr6:35464000-35466000	Active TSS	Hela-S3	cervix
33	chr6:35464000-35466200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:35464000-35466200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:35464000-35466200	Active TSS	Brain Substantia Nigra	brain
36	chr6:35464000-35466400	Active TSS	HSMM	muscle
37	chr6:35464200-35466000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr6:35465000-35466000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:35465000-35466000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr6:35465000-35466000	Flanking Bivalent TSS/Enh	Dnd41	blood
41	chr6:35465000-35466000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
42	chr6:35465000-35466200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr6:35465200-35466200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr6:35465200-35466200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
45	chr6:35465200-35466400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:35465200-35466400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:35465200-35466400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:35465200-35466400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:35465200-35466400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr6:35465400-35466000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

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