Variant report

Variant	rs560702643
Chromosome Location	chr6:131457038-131457039
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	BHLHE40	chr6:131456349-131457263	HepG2	liver:	n/a	chr6:131456953-131456969 chr6:131456961-131456977
2	RAD21	chr6:131456460-131457057	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr6:131456292-131457047	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr6:131456367-131457090	K562	blood:	n/a	n/a
5	POLR2A	chr6:131456264-131457109	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:131456980-131457130	HepG2	liver:	n/a	n/a
7	MAX	chr6:131456030-131457706	HepG2	liver:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
8	MAX	chr6:131456230-131457117	SK-N-SH	brain:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
9	HA-E2F1	chr6:131456378-131457094	Hela-S3	cervix:	n/a	chr6:131457016-131457025
10	MAX	chr6:131456168-131457189	MCF-7	breast:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
11	ZKSCAN1	chr6:131456226-131457534	Hela-S3	cervix:	n/a	n/a
12	HNF4A	chr6:131456289-131457622	HepG2	liver:	n/a	chr6:131457207-131457219 chr6:131457455-131457463 chr6:131457219-131457231 chr6:131457217-131457232 chr6:131457219-131457231 chr6:131457484-131457492
13	POLR2A	chr6:131455747-131457842	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:131456790-131457166	K562	blood:	n/a	n/a
15	POLR2A	chr6:131456277-131457082	HCT-116	colon:	n/a	n/a
16	RAD21	chr6:131456930-131457270	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:131456881-131457239	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:131456264-131457161	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr6:131456242-131457048	HCT-116	colon:	n/a	chr6:131456436-131456445 chr6:131456948-131456959 chr6:131456950-131456959
20	POLR2A	chr6:131456240-131457108	IMR90	lung:	n/a	n/a
21	CREB1	chr6:131456214-131457650	HepG2	liver:	n/a	n/a
22	RCOR1	chr6:131456328-131457473	HepG2	liver:	n/a	n/a
23	TAF1	chr6:131456276-131457242	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:131456304-131457078	MCF-7	breast:	n/a	n/a
25	TBP	chr6:131456317-131457210	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr6:131457017-131457968	MCF10A-Er-Src	breast:	n/a	n/a
27	ZNF143	chr6:131456272-131457119	H1-hESC	embryonic stem cell:	n/a	chr6:131457015-131457025
28	POLR2A	chr6:131456251-131457132	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr6:131456249-131457108	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:131456267-131457084	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr6:131456196-131457258	PANC-1	pancreas:	n/a	n/a
32	E2F6	chr6:131456333-131457091	K562	blood:	n/a	chr6:131457016-131457025
33	MBD4	chr6:131456970-131457636	HepG2	liver:	n/a	n/a
34	UBTF	chr6:131456334-131457653	K562	blood:	n/a	n/a
35	CTCF	chr6:131457000-131457150	BJ	skin:	n/a	n/a
36	MAX	chr6:131456029-131457229	HCT-116	colon:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
37	HDAC2	chr6:131456196-131457602	HepG2	liver:	n/a	chr6:131457186-131457200
38	POLR2A	chr6:131456257-131457290	HEK293	kidney:	n/a	n/a
39	POLR2A	chr6:131455744-131457623	HepG2	liver:	n/a	n/a
40	MYC	chr6:131456149-131457326	K562	blood:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
41	YY1	chr6:131456298-131457156	ECC-1	luminal epithelium:	n/a	chr6:131456436-131456445 chr6:131456948-131456959 chr6:131456950-131456959
42	POLR2A	chr6:131456212-131457259	Hela-S3	cervix:	n/a	n/a
43	MYC	chr6:131456009-131457421	MCF10A-Er-Src	breast:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
44	POLR2A	chr6:131456460-131457426	K562	blood:	n/a	n/a
45	MYC	chr6:131456120-131457336	A549	lung:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
46	FOXA1	chr6:131456977-131457652	HepG2	liver:	n/a	n/a
47	SIN3AK20	chr6:131456298-131457341	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr6:131456248-131457507	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:131456254-131457156	HCT-116	colon:	n/a	n/a
50	EP300	chr6:131456215-131457122	ECC-1	luminal epithelium:	n/a	chr6:131457016-131457025 chr6:131456938-131456954 chr6:131456881-131456890 chr6:131456939-131456955

No.	Distal block	Cell Line	Cell type
1	chr11:62609119..62609619-chr6:131456326..131457092,2	HCT-116	colon:
2	chr15:69744952..69745682-chr6:131456347..131457188,2	Hela-S3	cervix:
3	chr6:131456917..131458462-chr6:131459846..131461723,2	MCF-7	breast:

Variant related genes	Relation type
AKAP7	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000137818	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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv3398888	chr6:131455859-131457857	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131455600-131458000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:131455600-131458200	Active TSS	Stomach Smooth Muscle	stomach
3	chr6:131455800-131457200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr6:131455800-131457400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:131455800-131457400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:131455800-131457600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:131455800-131457600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:131455800-131457600	Active TSS	Brain Angular Gyrus	brain
9	chr6:131455800-131457600	Active TSS	NH-A	brain
10	chr6:131455800-131457800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr6:131455800-131457800	Active TSS	Psoas Muscle	Psoas
12	chr6:131455800-131457800	Active TSS	HSMM	muscle
13	chr6:131455800-131458000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:131456000-131457200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr6:131456000-131457200	Active TSS	Brain Germinal Matrix	brain
16	chr6:131456000-131457200	Active TSS	Fetal Intestine Small	intestine
17	chr6:131456000-131457200	Active TSS	Hela-S3	cervix
18	chr6:131456000-131457200	Active TSS	NHEK	skin
19	chr6:131456000-131457400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:131456000-131457400	Active TSS	Fetal Stomach	stomach
21	chr6:131456000-131457600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:131456000-131457600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:131456000-131457600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:131456000-131457600	Active TSS	Brain Anterior Caudate	brain
25	chr6:131456000-131457600	Active TSS	Brain Cingulate Gyrus	brain
26	chr6:131456000-131457600	Active TSS	Brain Substantia Nigra	brain
27	chr6:131456000-131457600	Active TSS	Colonic Mucosa	Colon
28	chr6:131456000-131457600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr6:131456000-131457600	Active TSS	Fetal Brain Female	brain
30	chr6:131456000-131457600	Active TSS	Osteobl	bone
31	chr6:131456000-131457800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:131456000-131457800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:131456000-131457800	Active TSS	Brain Hippocampus Middle	brain
34	chr6:131456000-131457800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:131456000-131457800	Active TSS	Fetal Lung	lung
36	chr6:131456000-131457800	Active TSS	Ovary	ovary
37	chr6:131456000-131458000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr6:131456000-131458000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:131456000-131458000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr6:131456000-131458000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:131456000-131458000	Active TSS	Fetal Muscle Leg	muscle
42	chr6:131456000-131458000	Active TSS	Right Atrium	heart
43	chr6:131456000-131458200	Active TSS	NHDF-Ad	bronchial
44	chr6:131456200-131457200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:131456200-131457200	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr6:131456200-131457200	Active TSS	Adipose Nuclei	Adipose
47	chr6:131456200-131457200	Active TSS	Small Intestine	intestine
48	chr6:131456200-131457200	Active TSS	Thymus	Thymus
49	chr6:131456200-131457400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:131456200-131457400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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