Variant report

Variant	rs72964335
Chromosome Location	chr2:128051997-128051998
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:128051408-128052046	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr2:128051468-128052024	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:128051461-128052035	GM10847	blood:	n/a	n/a
4	MYC	chr2:128051755-128052001	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr2:128051487-128052001	K562	blood:	n/a	n/a
6	REST	chr2:128050878-128052228	H1-neurons	neurons:	n/a	n/a
7	GTF2F1	chr2:128051606-128052005	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:128051216-128052058	Raji	blood:	n/a	n/a
9	MYC	chr2:128051928-128052039	K562	blood:	n/a	n/a
10	TCF12	chr2:128051314-128052112	ECC-1	luminal epithelium:	n/a	n/a
11	SIN3A	chr2:128050834-128052044	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:128051358-128052354	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:128051221-128052187	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:128051434-128052277	PANC-1	pancreas:	n/a	n/a
15	E2F6	chr2:128051295-128052093	A549	lung:	n/a	n/a
16	POLR2A	chr2:128051361-128052054	GM18526	blood:	n/a	n/a
17	POLR2A	chr2:128051180-128053077	PANC-1	pancreas:	n/a	n/a
18	SP2	chr2:128051486-128052043	HepG2	liver:	n/a	chr2:128051769-128051784
19	POLR2A	chr2:128051003-128052170	GM12892	blood:	n/a	n/a
20	GABPA	chr2:128051045-128052082	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr2:128051489-128052038	K562	blood:	n/a	n/a
22	ZBTB7A	chr2:128051337-128052045	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr2:128051256-128052165	GM12892	blood:	n/a	n/a
24	TBL1XR1	chr2:128051459-128052104	GM12878	blood:	n/a	n/a
25	MAX	chr2:128051175-128052094	MCF-7	breast:	n/a	n/a
26	MYC	chr2:128051369-128052090	K562	blood:	n/a	n/a
27	MAZ	chr2:128051404-128052014	K562	blood:	n/a	n/a
28	GABPA	chr2:128050974-128052136	MCF-7	breast:	n/a	n/a
29	PML	chr2:128051138-128052222	GM12878	blood:	n/a	n/a
30	MTA3	chr2:128051022-128052205	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:128051375-128052132	PFSK-1	brain:	n/a	n/a
32	CEBPD	chr2:128051489-128052092	K562	blood:	n/a	n/a
33	MAX	chr2:128051293-128052064	H1-hESC	embryonic stem cell:	n/a	n/a
34	POU2F2	chr2:128051310-128052037	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:128051379-128052020	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr2:128051281-128052057	GM19099	blood:	n/a	n/a
37	POLR2A	chr2:128051433-128052120	HUVEC	blood vessel:	n/a	n/a
38	RELA	chr2:128051522-128052021	GM15510	blood:	n/a	n/a
39	POLR2A	chr2:128051382-128052065	HCT-116	colon:	n/a	n/a
40	YY1	chr2:128050992-128052012	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:128051350-128052041	GM15510	blood:	n/a	n/a
42	TAF1	chr2:128051311-128051997	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr2:128051490-128052651	SK-N-SH	brain:	n/a	n/a
44	GABPA	chr2:128051154-128052104	K562	blood:	n/a	n/a
45	POLR2A	chr2:128051428-128052041	HepG2	liver:	n/a	n/a
46	GABPA	chr2:128051098-128052135	SK-N-SH	brain:	n/a	n/a
47	GTF3C2	chr2:128051806-128052673	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr2:128051307-128052065	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:128051490-128052058	K562	blood:	n/a	n/a
50	MAZ	chr2:128051224-128052167	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153507987..153508581-chr2:128051374..128052175,2	HCT-116	colon:
2	chr2:128050445..128053038-chr2:128144842..128147674,3	K562	blood:
3	chr2:128051804..128052511-chr9:140134733..140135426,2	Hela-S3	cervix:
4	chr2:128050076..128053017-chr2:128173952..128176764,3	MCF-7	breast:
5	chr2:128019410..128021681-chr2:128050187..128052921,2	MCF-7	breast:

No data

Variant related genes	Relation type
ERCC3	TF binding region
ENSG00000236682	Chromatin interaction
ENSG00000169967	Chromatin interaction
ENSG00000163161	Chromatin interaction
ENSG00000115718	Chromatin interaction
ENSG00000197956	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10169028	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10178188	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195774	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10206392	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10211382	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10221754	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10439213	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10439214	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10451530	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1128974	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1129121	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13406313	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13421256	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13424947	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13429050	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13431911	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1607437	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271026	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755310	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4150448	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4150487	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4150507	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4150512	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4150515	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55826634	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56276844	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57011781	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57547812	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57878090	0.98[ASN][1000 genomes]
rs59283013	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59306090	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6710541	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6711086	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6727155	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6740067	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6740368	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6743815	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6750648	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72956480	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72956485	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72964338	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72964344	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72964352	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72964361	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7564189	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7584829	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7586961	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs878461	0.82[EUR][1000 genomes]
rs908787	0.82[EUR][1000 genomes]
rs9808452	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr2:128050400-128052600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:128050600-128052200	Active TSS	Colon Smooth Muscle	Colon
3	chr2:128050600-128052400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr2:128050600-128052600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:128050800-128052400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:128050800-128052400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:128050800-128052400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:128050800-128052400	Active TSS	Fetal Kidney	kidney
9	chr2:128050800-128052400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:128050800-128052400	Active TSS	Psoas Muscle	Psoas
11	chr2:128050800-128052800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr2:128051000-128052000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:128051000-128052000	Bivalent/Poised TSS	HepG2	liver
14	chr2:128051000-128052200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr2:128051000-128052200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:128051000-128052200	Active TSS	Aorta	Aorta
17	chr2:128051000-128052200	Active TSS	Brain Substantia Nigra	brain
18	chr2:128051000-128052200	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr2:128051000-128052200	Active TSS	Small Intestine	intestine
20	chr2:128051000-128052200	Active TSS	HSMMtube	muscle
21	chr2:128051000-128052200	Active TSS	NHDF-Ad	bronchial
22	chr2:128051000-128052400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:128051000-128052400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:128051000-128052400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:128051000-128052600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:128051000-128052600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:128051000-128052800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr2:128051200-128052000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:128051200-128052000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr2:128051200-128052000	Active TSS	Fetal Heart	heart
31	chr2:128051200-128052000	Active TSS	Fetal Muscle Leg	muscle
32	chr2:128051200-128052000	Active TSS	Placenta	Placenta
33	chr2:128051200-128052000	Active TSS	Fetal Thymus	thymus
34	chr2:128051200-128052000	Active TSS	Spleen	Spleen
35	chr2:128051200-128052200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:128051200-128052200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:128051200-128052200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:128051200-128052200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:128051200-128052200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:128051200-128052200	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr2:128051200-128052200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:128051200-128052200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr2:128051200-128052200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr2:128051200-128052200	Active TSS	Brain Hippocampus Middle	brain
45	chr2:128051200-128052200	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr2:128051200-128052200	Active TSS	Left Ventricle	heart
47	chr2:128051200-128052200	Active TSS	Pancreas	Pancrea
48	chr2:128051200-128052200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr2:128051200-128052200	Active TSS	Thymus	Thymus
50	chr2:128051200-128052400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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