Variant report

Variant	rs552888931
Chromosome Location	chr6:131456522-131456523
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	POLR2A	chr6:131456373-131456769	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr6:131456251-131456750	A549	lung:	n/a	chr6:131456627-131456635
3	BHLHE40	chr6:131456349-131457263	HepG2	liver:	n/a	chr6:131456953-131456969 chr6:131456961-131456977
4	CEBPB	chr6:131456011-131456610	A549	lung:	n/a	chr6:131456292-131456305 chr6:131456294-131456305 chr6:131456292-131456303 chr6:131456294-131456305
5	MYC	chr6:131456264-131456967	H1-hESC	embryonic stem cell:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
6	RAD21	chr6:131456460-131457057	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr6:131456486-131456856	HepG2	liver:	n/a	n/a
8	TAF7	chr6:131456438-131456753	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr6:131456292-131457047	H1-hESC	embryonic stem cell:	n/a	n/a
10	CCNT2	chr6:131456367-131457090	K562	blood:	n/a	n/a
11	POLR2A	chr6:131456264-131457109	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr6:131456298-131456973	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr6:131456030-131457706	HepG2	liver:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
14	MAX	chr6:131456230-131457117	SK-N-SH	brain:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
15	HA-E2F1	chr6:131456378-131457094	Hela-S3	cervix:	n/a	chr6:131457016-131457025
16	MAX	chr6:131456168-131457189	MCF-7	breast:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
17	ZKSCAN1	chr6:131456226-131457534	Hela-S3	cervix:	n/a	n/a
18	ZNF384	chr6:131456464-131456650	K562	blood:	n/a	n/a
19	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
20	POLR2A	chr6:131455747-131457842	MCF10A-Er-Src	breast:	n/a	n/a
21	TAF1	chr6:131456232-131456876	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr6:131456277-131457082	HCT-116	colon:	n/a	n/a
23	YY1	chr6:131456317-131456648	A549	lung:	n/a	chr6:131456436-131456445
24	POLR2A	chr6:131456264-131457161	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:131456095-131456707	U87	brain:	n/a	n/a
26	YY1	chr6:131456242-131457048	HCT-116	colon:	n/a	chr6:131456436-131456445 chr6:131456948-131456959 chr6:131456950-131456959
27	POLR2A	chr6:131456320-131456997	MCF-7	breast:	n/a	n/a
28	POLR2A	chr6:131456240-131457108	IMR90	lung:	n/a	n/a
29	CREB1	chr6:131456214-131457650	HepG2	liver:	n/a	n/a
30	RCOR1	chr6:131456328-131457473	HepG2	liver:	n/a	n/a
31	TAF1	chr6:131456276-131457242	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:131456304-131457078	MCF-7	breast:	n/a	n/a
33	TBP	chr6:131456317-131457210	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF143	chr6:131456272-131457119	H1-hESC	embryonic stem cell:	n/a	chr6:131457015-131457025
35	POLR2A	chr6:131456251-131457132	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr6:131456350-131457029	A549	lung:	n/a	n/a
37	POLR2A	chr6:131456249-131457108	Hela-S3	cervix:	n/a	n/a
38	HEY1	chr6:131456342-131456932	K562	blood:	n/a	n/a
39	POLR2A	chr6:131456267-131457084	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr6:131456238-131456835	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr6:131456157-131456677	SK-N-MC	brain:	n/a	n/a
42	EP300	chr6:131456347-131456847	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr6:131456196-131457258	PANC-1	pancreas:	n/a	n/a
44	RAD21	chr6:131456360-131457037	HepG2	liver:	n/a	n/a
45	E2F6	chr6:131456333-131457091	K562	blood:	n/a	chr6:131457016-131457025
46	UBTF	chr6:131456334-131457653	K562	blood:	n/a	n/a
47	EGR1	chr6:131456244-131456920	H1-hESC	embryonic stem cell:	n/a	chr6:131456373-131456386 chr6:131456374-131456385 chr6:131456433-131456443 chr6:131456534-131456544 chr6:131456373-131456387 chr6:131456375-131456385
48	GABPA	chr6:131456391-131456775	K562	blood:	n/a	n/a
49	MAX	chr6:131456029-131457229	HCT-116	colon:	n/a	chr6:131456304-131456314 chr6:131456533-131456543 chr6:131456434-131456444 chr6:131456378-131456388
50	RFX5	chr6:131456246-131456569	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:131455039..131456597-chr6:131460458..131462514,2	K562	blood:
2	chr1:1509737..1510642-chr6:131456190..131456991,2	Hela-S3	cervix:
3	chr11:62609119..62609619-chr6:131456326..131457092,2	HCT-116	colon:
4	chr15:69744952..69745682-chr6:131456347..131457188,2	Hela-S3	cervix:
5	chr6:131452705..131454330-chr6:131455080..131456599,2	K562	blood:

Variant related genes	Relation type
AKAP7	TF binding region
ENSG00000137818	Chromatin interaction
ENSG00000215014	Chromatin interaction
ENSG00000160075	Chromatin interaction
ENSG00000133316	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	chr6:131455800-131456600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr6:131455800-131456600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr6:131455800-131457200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:131455800-131457400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:131455800-131457400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:131455800-131457600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:131455800-131457600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:131455800-131457600	Active TSS	Brain Angular Gyrus	brain
11	chr6:131455800-131457600	Active TSS	NH-A	brain
12	chr6:131455800-131457800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr6:131455800-131457800	Active TSS	Psoas Muscle	Psoas
14	chr6:131455800-131457800	Active TSS	HSMM	muscle
15	chr6:131455800-131458000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:131456000-131456600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:131456000-131457000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr6:131456000-131457000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:131456000-131457000	Active TSS	HepG2	liver
20	chr6:131456000-131457200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:131456000-131457200	Active TSS	Brain Germinal Matrix	brain
22	chr6:131456000-131457200	Active TSS	Fetal Intestine Small	intestine
23	chr6:131456000-131457200	Active TSS	Hela-S3	cervix
24	chr6:131456000-131457200	Active TSS	NHEK	skin
25	chr6:131456000-131457400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:131456000-131457400	Active TSS	Fetal Stomach	stomach
27	chr6:131456000-131457600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:131456000-131457600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:131456000-131457600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:131456000-131457600	Active TSS	Brain Anterior Caudate	brain
31	chr6:131456000-131457600	Active TSS	Brain Cingulate Gyrus	brain
32	chr6:131456000-131457600	Active TSS	Brain Substantia Nigra	brain
33	chr6:131456000-131457600	Active TSS	Colonic Mucosa	Colon
34	chr6:131456000-131457600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr6:131456000-131457600	Active TSS	Fetal Brain Female	brain
36	chr6:131456000-131457600	Active TSS	Osteobl	bone
37	chr6:131456000-131457800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:131456000-131457800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:131456000-131457800	Active TSS	Brain Hippocampus Middle	brain
40	chr6:131456000-131457800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:131456000-131457800	Active TSS	Fetal Lung	lung
42	chr6:131456000-131457800	Active TSS	Ovary	ovary
43	chr6:131456000-131458000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr6:131456000-131458000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:131456000-131458000	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:131456000-131458000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:131456000-131458000	Active TSS	Fetal Muscle Leg	muscle
48	chr6:131456000-131458000	Active TSS	Right Atrium	heart
49	chr6:131456000-131458200	Active TSS	NHDF-Ad	bronchial
50	chr6:131456200-131456600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood

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