Variant report

Variant	rs373074597
Chromosome Location	chr6:74020119-74020120
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	MAX	chr6:74019399-74020191	GM12878	blood:	n/a	n/a
2	RAD21	chr6:74020068-74020282	A549	lung:	n/a	chr6:74020148-74020160 chr6:74020149-74020162 chr6:74020100-74020113 chr6:74020150-74020160
3	CTCF	chr6:74020063-74020260	GM10248	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
4	ZNF143	chr6:74018951-74020248	K562	blood:	n/a	n/a
5	E2F6	chr6:74019334-74020232	K562	blood:	n/a	chr6:74019515-74019526 chr6:74019969-74019981 chr6:74019491-74019502
6	CTCF	chr6:74020020-74020170	GM12870	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
7	POLR2A	chr6:74019095-74020165	MCF-7	breast:	n/a	n/a
8	MAX	chr6:74019462-74020299	SK-N-SH	brain:	n/a	n/a
9	BHLHE40	chr6:74018914-74020168	K562	blood:	n/a	n/a
10	ELF1	chr6:74018901-74020232	MCF-7	breast:	n/a	chr6:74019199-74019208 chr6:74019197-74019208 chr6:74019195-74019208 chr6:74019198-74019207 chr6:74020177-74020189 chr6:74019197-74019208
11	CTCF	chr6:74020080-74020230	AoAF	blood vessel:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
12	CTCF	chr6:74020025-74020292	Spleen_OC	spleen:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
13	CTCF	chr6:74020080-74020230	GM12875	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
14	POLR2A	chr6:74019424-74020251	K562	blood:	n/a	n/a
15	YY1	chr6:74019824-74020217	K562	blood:	n/a	chr6:74020177-74020191
16	IRF1	chr6:74019640-74020160	K562	blood:	n/a	chr6:74019919-74019933
17	CTCF	chr6:74020060-74020210	AG04449	skin:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
18	CTCF	chr6:74020040-74020190	HFF-Myc	foreskin:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
19	SMARCC2	chr6:74019001-74020171	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr6:74020036-74020223	HUVEC	blood vessel:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
21	RAD21	chr6:74019952-74020302	SK-N-SH_RA	brain:	n/a	chr6:74020148-74020160 chr6:74020149-74020162 chr6:74020100-74020113 chr6:74020150-74020160
22	EP300	chr6:74019752-74020194	K562	blood:	n/a	n/a
23	CTCF	chr6:74020038-74020317	A549	lung:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
24	CTCF	chr6:74020080-74020230	AG09319	gingival:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
25	CTCF	chr6:74020040-74020190	GM12878	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
26	CTCF	chr6:74020060-74020210	HCPEpiC	choroid plexus:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
27	POLR2A	chr6:74018949-74020218	HCT-116	colon:	n/a	n/a
28	CTCF	chr6:74020008-74020221	SK-N-SH_RA	brain:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
29	CTCF	chr6:74020004-74020276	GM12878	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
30	CTCF	chr6:74020100-74020250	GM12874	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
31	EGR1	chr6:74019652-74020295	MCF-7	breast:	n/a	chr6:74019973-74019986 chr6:74019971-74019981 chr6:74019974-74019984 chr6:74019970-74019984 chr6:74019973-74019986
32	CTCF	chr6:74019992-74020275	MCF-7	breast:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
33	CTCF	chr6:74020080-74020230	HEEpiC	esophagus:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
34	CTCF	chr6:74020080-74020230	HMEC	breast:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
35	CTCF	chr6:74019910-74020283	GM19240	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
36	ZMIZ1	chr6:74019063-74020175	K562	blood:	n/a	n/a
37	CTCF	chr6:74020009-74020215	SK-N-SH_RA	brain:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
38	CTCF	chr6:74019789-74020324	K562	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
39	SMC3	chr6:74019583-74020249	Hela-S3	cervix:	n/a	chr6:74020150-74020160 chr6:74020177-74020187
40	CTCF	chr6:74020100-74020250	BE2_C	brain:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
41	CTCF	chr6:74020040-74020190	GM12865	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
42	CTCF	chr6:74020060-74020210	HCFaa	heart:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
43	TEAD4	chr6:74018755-74020213	K562	blood:	n/a	n/a
44	CTCF	chr6:74020020-74020271	GM13976	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
45	POLR2A	chr6:74019386-74020188	HUVEC	blood vessel:	n/a	n/a
46	SP2	chr6:74019972-74020215	K562	blood:	n/a	chr6:74020047-74020062
47	CHD2	chr6:74018953-74020259	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr6:74020052-74020234	Hela-S3	cervix:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
49	CTCF	chr6:74020040-74020190	GM12866	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
50	CTCF	chr6:74020080-74020230	GM12869	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160

No.	Distal block	Cell Line	Cell type
1	chr6:74018617..74020402-chr6:74229038..74231578,2	K562	blood:
2	chr6:74019132..74021037-chr6:74035102..74038001,2	MCF-7	breast:
3	chr6:74019175..74020751-chr6:74101665..74105754,3	MCF-7	breast:
4	chr1:24285827..24286696-chr6:74019562..74020370,2	Hela-S3	cervix:

Variant related genes	Relation type
KHDC1	TF binding region
ENSG00000156508	Chromatin interaction
ENSG00000189266	Chromatin interaction
ENSG00000226840	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000238464	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv518874	chr6:74014468-74041424	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv966628	chr6:74020000-74034657	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr6:74016200-74020400	Active TSS	Hela-S3	cervix
2	chr6:74017200-74020800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:74018200-74020400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:74018200-74020600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr6:74018400-74020200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:74018400-74020400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:74018400-74020400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:74018400-74020400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:74018400-74020600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:74018400-74020600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:74018400-74020600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:74018600-74020200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:74018600-74020200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:74018600-74020200	Active TSS	GM12878-XiMat	blood
15	chr6:74018600-74020400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr6:74018600-74020400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:74018600-74020400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:74018600-74020400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:74018600-74020400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:74018600-74020400	Flanking Active TSS	Fetal Thymus	thymus
21	chr6:74018600-74020400	Active TSS	A549	lung
22	chr6:74018600-74020600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:74018600-74020600	Active TSS	Brain Germinal Matrix	brain
24	chr6:74018600-74020600	Active TSS	Fetal Brain Female	brain
25	chr6:74018800-74020200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:74018800-74020200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:74018800-74020200	Flanking Active TSS	HMEC	breast
28	chr6:74018800-74020400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:74018800-74020400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:74018800-74020400	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr6:74018800-74020400	Active TSS	NHDF-Ad	bronchial
32	chr6:74018800-74020400	Active TSS	NHLF	lung
33	chr6:74018800-74020600	Active TSS	Brain Angular Gyrus	brain
34	chr6:74018800-74020600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:74018800-74020600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:74019000-74020200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:74019000-74020200	Active TSS	Esophagus	oesophagus
38	chr6:74019000-74020200	Flanking Bivalent TSS/Enh	Placenta	Placenta
39	chr6:74019000-74020200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr6:74019000-74020400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr6:74019000-74020400	Active TSS	Brain Anterior Caudate	brain
42	chr6:74019000-74020400	Active TSS	Fetal Heart	heart
43	chr6:74019000-74020400	Active TSS	Fetal Kidney	kidney
44	chr6:74019000-74020400	Active TSS	Rectal Smooth Muscle	rectum
45	chr6:74019000-74020600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:74019000-74020600	Active TSS	Brain Substantia Nigra	brain
47	chr6:74019000-74020600	Active TSS	Fetal Lung	lung
48	chr6:74019000-74020600	Active TSS	Ovary	ovary
49	chr6:74019200-74020200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:74019200-74020200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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