Variant report

Variant	rs61750895
Chromosome Location	chr1:94313082-94313083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:529)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr1:94312915-94313415	K562	blood:	n/a	n/a
2	CTCF	chr1:94313040-94313190	HCPEpiC	choroid plexus:	n/a	n/a
3	CREB1	chr1:94312542-94313367	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:94312881-94313371	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:94311717-94313891	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:94311225-94313897	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr1:94312598-94313263	HepG2	liver:	n/a	n/a
8	RCOR1	chr1:94312819-94313993	Hela-S3	cervix:	n/a	n/a
9	JUN	chr1:94312925-94313365	K562	blood:	n/a	n/a
10	ZBTB33	chr1:94312926-94313337	A549	lung:	n/a	n/a
11	MAX	chr1:94311665-94313906	HepG2	liver:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
12	REST	chr1:94312866-94313247	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr1:94313030-94313179	MCF-7	breast:	n/a	n/a
14	CHD2	chr1:94312837-94313378	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF12	chr1:94312939-94313265	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:94313040-94313190	GM12867	blood:	n/a	n/a
17	RXRA	chr1:94312712-94313260	GM12878	blood:	n/a	n/a
18	BRCA1	chr1:94312819-94313280	GM12878	blood:	n/a	n/a
19	CEBPB	chr1:94312719-94313338	H1-hESC	embryonic stem cell:	n/a	chr1:94313134-94313145
20	MEF2A	chr1:94312782-94313810	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr1:94311700-94313828	HEK293	kidney:	n/a	n/a
22	TEAD4	chr1:94312786-94313464	A549	lung:	n/a	n/a
23	MAX	chr1:94311741-94313908	K562	blood:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
24	SIN3AK20	chr1:94312520-94313366	H1-hESC	embryonic stem cell:	n/a	n/a
25	NRF1	chr1:94312932-94313309	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:94313056-94313190	MCF-7	breast:	n/a	n/a
27	REST	chr1:94310836-94314061	H1-neurons	neurons:	n/a	chr1:94313411-94313429 chr1:94313382-94313392 chr1:94313624-94313638 chr1:94312132-94312145
28	STAT1	chr1:94312888-94313369	GM12878	blood:	n/a	n/a
29	YY1	chr1:94312993-94313382	HepG2	liver:	n/a	n/a
30	TBP	chr1:94312714-94313864	HepG2	liver:	n/a	n/a
31	TCF7L2	chr1:94311274-94313955	Hela-S3	cervix:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
32	STAT5A	chr1:94312692-94313434	GM12878	blood:	n/a	chr1:94312796-94312808
33	THAP1	chr1:94312993-94313250	K562	blood:	n/a	n/a
34	EP300	chr1:94312876-94313934	H1-hESC	embryonic stem cell:	n/a	chr1:94313265-94313279
35	GATA2	chr1:94313011-94313381	HUVEC	blood vessel:	n/a	n/a
36	ATF2	chr1:94312744-94313440	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZBTB7A	chr1:94311557-94314008	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr1:94312987-94313210	K562	blood:	n/a	chr1:94313134-94313145
39	FOS	chr1:94313025-94313267	MCF10A-Er-Src	breast:	n/a	n/a
40	TCF12	chr1:94312926-94313307	A549	lung:	n/a	n/a
41	TAF1	chr1:94312544-94313329	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAZ	chr1:94312645-94313330	HepG2	liver:	n/a	n/a
43	CTCF	chr1:94313000-94313150	HUVEC	blood vessel:	n/a	n/a
44	FOS	chr1:94313027-94313243	MCF10A-Er-Src	breast:	n/a	n/a
45	CTCF	chr1:94313080-94313230	AG04449	skin:	n/a	n/a
46	ZBTB7A	chr1:94312556-94313749	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr1:94311075-94313288	Hela-S3	cervix:	n/a	n/a
48	MYC	chr1:94312927-94313325	H1-hESC	embryonic stem cell:	n/a	n/a
49	TCF12	chr1:94312588-94314023	ECC-1	luminal epithelium:	n/a	n/a
50	RPC155	chr1:94312845-94313465	K562	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94145898..94148493-chr1:94311257..94313086,3	MCF-7	breast:
2	chr1:94031565..94034150-chr1:94311941..94313768,2	MCF-7	breast:
3	chr1:94032781..94034755-chr1:94312060..94314320,2	K562	blood:
4	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
5	chr1:94313007..94313936-chr6:26157347..26158507,3	Hela-S3	cervix:
6	chr1:93544000..93546020-chr1:94311349..94313397,2	MCF-7	breast:
7	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
8	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
9	chr1:94146501..94148043-chr1:94311466..94313377,2	MCF-7	breast:
10	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
11	chr1:94312249..94313217-chr1:155197097..155198051,2	Hela-S3	cervix:
12	chr1:94311158..94313376-chr1:94883814..94886511,2	K562	blood:
13	chr1:94312789..94313294-chr18:32621178..32621938,2	Hela-S3	cervix:
14	chr1:93643262..93645748-chr1:94311384..94313517,2	K562	blood:
15	chr1:94312118..94313117-chr12:53773612..53774367,2	Hela-S3	cervix:
16	chr1:94312180..94314378-chr1:94343204..94344804,3	K562	blood:
17	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
18	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
19	chr1:94312783..94313640-chr15:35280176..35280971,2	Hela-S3	cervix:
20	chr1:94311309..94313221-chr1:94336029..94338174,3	K562	blood:
21	chr1:94312714..94313428-chr16:2301058..2301846,2	Hela-S3	cervix:
22	chr1:94312026..94313686-chr1:94337188..94339061,2	MCF-7	breast:
23	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
24	chr1:94312529..94314745-chr1:94335727..94337365,2	MCF-7	breast:
25	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
26	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:
27	chr1:94224636..94227402-chr1:94312918..94314465,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-2	chr1:94312730-94314495	ENSG00000260464.1
2	lnc-FNBP1L-2	chr1:94312708-94317158	NONHSAT004550

No data

Variant related genes	Relation type
BCAR3	TF binding region
ENSG00000122483	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000167969	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000166974	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000185591	Chromatin interaction
ENSG00000198146	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000223745	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10874804	1.00[ASN][1000 genomes]
rs10874805	1.00[ASN][1000 genomes]
rs11165011	0.94[EUR][1000 genomes]
rs11165027	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11165028	1.00[ASN][1000 genomes]
rs11165029	1.00[ASN][1000 genomes]
rs11165032	1.00[ASN][1000 genomes]
rs11805379	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808380	1.00[ASN][1000 genomes]
rs12059028	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062272	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062925	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069476	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076074	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078134	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080386	1.00[ASN][1000 genomes]
rs12081399	1.00[ASN][1000 genomes]
rs12090038	1.00[ASN][1000 genomes]
rs12090230	1.00[ASN][1000 genomes]
rs12094966	1.00[ASN][1000 genomes]
rs17110374	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110608	1.00[ASN][1000 genomes]
rs2234729	1.00[ASN][1000 genomes]
rs4075342	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292667	1.00[ASN][1000 genomes]
rs41292669	1.00[ASN][1000 genomes]
rs41292671	1.00[ASN][1000 genomes]
rs41292673	1.00[ASN][1000 genomes]
rs4542218	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57136451	1.00[ASN][1000 genomes]
rs58790885	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59444123	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59545065	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60057678	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6541397	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680755	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686765	1.00[ASN][1000 genomes]
rs6692306	1.00[ASN][1000 genomes]
rs6701957	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702045	1.00[ASN][1000 genomes]
rs6702064	1.00[ASN][1000 genomes]
rs6704348	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965451	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967332	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969374	1.00[ASN][1000 genomes]
rs7514067	1.00[ASN][1000 genomes]
rs7515991	1.00[ASN][1000 genomes]
rs7525516	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552401	1.00[ASN][1000 genomes]
rs7555872	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
3	esv3438948	chr1:94311389-94313937	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 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	chr1:94311200-94313800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94311200-94313800	Active TSS	Lung	lung
3	chr1:94311200-94314000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:94311200-94314000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:94311200-94314000	Active TSS	Ovary	ovary
6	chr1:94311400-94313200	Active TSS	Thymus	Thymus
7	chr1:94311400-94313400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:94311400-94313800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:94311400-94313800	Active TSS	NH-A	brain
10	chr1:94311400-94314000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:94311400-94314000	Active TSS	Aorta	Aorta
12	chr1:94311400-94314000	Active TSS	Colonic Mucosa	Colon
13	chr1:94311400-94314000	Active TSS	Fetal Muscle Trunk	muscle
14	chr1:94311400-94314000	Active TSS	Psoas Muscle	Psoas
15	chr1:94311400-94314000	Active TSS	Right Ventricle	heart
16	chr1:94311400-94314000	Active TSS	NHDF-Ad	bronchial
17	chr1:94311600-94313400	Active TSS	Fetal Brain Female	brain
18	chr1:94311600-94313600	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr1:94311600-94313600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr1:94311600-94313600	Active TSS	Colon Smooth Muscle	Colon
21	chr1:94311600-94313600	Active TSS	Esophagus	oesophagus
22	chr1:94311600-94313600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:94311600-94313800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:94311600-94313800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:94311600-94313800	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr1:94311600-94313800	Active TSS	Brain Hippocampus Middle	brain
27	chr1:94311600-94313800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:94311600-94313800	Active TSS	Fetal Kidney	kidney
29	chr1:94311600-94313800	Active TSS	Gastric	stomach
30	chr1:94311600-94313800	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr1:94311600-94313800	Active TSS	Small Intestine	intestine
32	chr1:94311600-94313800	Active TSS	A549	lung
33	chr1:94311600-94313800	Active TSS	Hela-S3	cervix
34	chr1:94311600-94314000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:94311600-94314000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:94311600-94314000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:94311600-94314000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:94311600-94314000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:94311600-94314000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:94311600-94314000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:94311600-94314000	Active TSS	Brain Anterior Caudate	brain
42	chr1:94311600-94314000	Active TSS	Brain Germinal Matrix	brain
43	chr1:94311600-94314000	Active TSS	Fetal Heart	heart
44	chr1:94311600-94314000	Active TSS	Left Ventricle	heart
45	chr1:94311600-94314000	Active TSS	Pancreas	Pancrea
46	chr1:94311600-94314200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:94311600-94314200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:94311600-94314200	Active TSS	Brain Angular Gyrus	brain
49	chr1:94311600-94314200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:94311600-94314200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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