Variant report

Variant	rs8043311
Chromosome Location	chr15:99789742-99789743
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:113 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr15:99789516-99789915	Hela-S3	cervix:	n/a	n/a
2	SIN3A	chr15:99789521-99790135	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr15:99789665-99790023	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:99789291-99790177	SK-N-MC	brain:	n/a	n/a
5	ELF1	chr15:99789608-99789907	HepG2	liver:	n/a	n/a
6	MAX	chr15:99789491-99789875	NB4	blood:	n/a	n/a
7	E2F4	chr15:99789485-99790246	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr15:99789504-99789969	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:99789607-99789774	HepG2	liver:	n/a	n/a
10	RCOR1	chr15:99789527-99790134	Hela-S3	cervix:	n/a	n/a
11	SP2	chr15:99789666-99790072	HepG2	liver:	n/a	n/a
12	CHD2	chr15:99789547-99790072	Hela-S3	cervix:	n/a	n/a
13	ELF1	chr15:99789493-99790044	A549	lung:	n/a	n/a
14	GABPA	chr15:99789374-99790232	A549	lung:	n/a	n/a
15	NFYB	chr15:99789472-99790192	Hela-S3	cervix:	n/a	n/a
16	STAT3	chr15:99789621-99790004	MCF10A-Er-Src	breast:	n/a	chr15:99789760-99789771
17	MXI1	chr15:99789432-99790433	Hela-S3	cervix:	n/a	n/a
18	RFX5	chr15:99789346-99790094	Hela-S3	cervix:	n/a	n/a
19	HEY1	chr15:99789535-99789976	HepG2	liver:	n/a	n/a
20	POLR2A	chr15:99789465-99790163	HCT-116	colon:	n/a	n/a
21	POLR2A	chr15:99789399-99790040	HUVEC	blood vessel:	n/a	n/a
22	MAX	chr15:99789360-99790302	ECC-1	luminal epithelium:	n/a	n/a
23	STAT1	chr15:99789487-99790010	Hela-S3	cervix:	n/a	chr15:99789760-99789771
24	MAFK	chr15:99789722-99789860	K562	blood:	n/a	n/a
25	POLR2A	chr15:99789322-99790098	PANC-1	pancreas:	n/a	n/a
26	MAX	chr15:99789574-99790156	HCT-116	colon:	n/a	n/a
27	TAF1	chr15:99789431-99790076	Hela-S3	cervix:	n/a	n/a
28	MAFK	chr15:99789403-99790206	Hela-S3	cervix:	n/a	n/a
29	STAT3	chr15:99789319-99790061	MCF10A-Er-Src	breast:	n/a	chr15:99789760-99789771
30	POLR2A	chr15:99789356-99792203	PFSK-1	brain:	n/a	n/a
31	EP300	chr15:99789340-99790082	Hela-S3	cervix:	n/a	n/a
32	STAT3	chr15:99789492-99790038	MCF10A-Er-Src	breast:	n/a	chr15:99789760-99789771
33	SP1	chr15:99789351-99790246	A549	lung:	n/a	n/a
34	MXI1	chr15:99789405-99789973	GM12878	blood:	n/a	n/a
35	CEBPB	chr15:99789339-99790077	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr15:99789525-99790060	HUVEC	blood vessel:	n/a	n/a
37	SP1	chr15:99789278-99790265	A549	lung:	n/a	n/a
38	PBX3	chr15:99789592-99790041	A549	lung:	n/a	n/a
39	ELK4	chr15:99789492-99789928	Hela-S3	cervix:	n/a	n/a
40	SIN3AK20	chr15:99789476-99790126	HCT-116	colon:	n/a	n/a
41	FOS	chr15:99789714-99790279	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr15:99789363-99790500	MCF10A-Er-Src	breast:	n/a	n/a
43	JUND	chr15:99789553-99790032	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr15:99789435-99789988	U87	brain:	n/a	n/a
45	POLR2A	chr15:99789378-99790012	Hela-S3	cervix:	n/a	n/a
46	GATA3	chr15:99789469-99789885	T-47D	breast:	n/a	n/a
47	TAF1	chr15:99789422-99789816	GM12878	blood:	n/a	n/a
48	CREB1	chr15:99789563-99789975	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr15:99789413-99790001	HUVEC	blood vessel:	n/a	n/a
50	ZNF143	chr15:99789621-99789954	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99643812..99646594-chr15:99789555..99792592,4	MCF-7	breast:
2	chr15:99788657..99793033-chr15:100273651..100276844,5	MCF-7	breast:

No data

Variant related genes	Relation type
TTC23	TF binding region
LRRC28	TF binding region
ENSG00000183060	Chromatin interaction
ENSG00000259475	Chromatin interaction
ENSG00000182253	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10152456	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10152794	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591132	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12593449	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1567417	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1567418	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2084900	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2902154	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55909409	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56315393	0.91[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs56341787	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56364603	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62023767	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62025697	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7170360	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7175165	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7178124	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8025136	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028374	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8029886	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8042439	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
13	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	nsv1052528	chr15:99736977-99874210	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1045367	chr15:99781626-99892182	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99782200-99791000	Weak transcription	Spleen	Spleen
2	chr15:99787400-99792400	Active TSS	GM12878-XiMat	blood
3	chr15:99788200-99789800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:99788200-99790200	Active TSS	NHLF	lung
5	chr15:99788200-99791400	Active TSS	Right Atrium	heart
6	chr15:99788200-99792400	Active TSS	Aorta	Aorta
7	chr15:99788200-99792400	Active TSS	Fetal Intestine Small	intestine
8	chr15:99788200-99792600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:99788400-99792200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:99788400-99792200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr15:99788400-99792400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:99788400-99792600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:99788400-99792600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr15:99788400-99792600	Active TSS	Fetal Intestine Large	intestine
15	chr15:99788400-99792600	Active TSS	Right Ventricle	heart
16	chr15:99788400-99792800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr15:99788400-99792800	Active TSS	HSMMtube	muscle
18	chr15:99788600-99790200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:99788600-99790600	Active TSS	Fetal Brain Female	brain
20	chr15:99788600-99791000	Active TSS	HepG2	liver
21	chr15:99788600-99792000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr15:99788600-99792400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr15:99788600-99792400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr15:99788600-99792400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:99788600-99792400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:99788600-99792400	Active TSS	Colonic Mucosa	Colon
27	chr15:99788600-99792400	Active TSS	Fetal Kidney	kidney
28	chr15:99788600-99792600	Active TSS	Fetal Muscle Trunk	muscle
29	chr15:99788600-99792800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr15:99788800-99790000	Active TSS	Left Ventricle	heart
31	chr15:99788800-99790200	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr15:99788800-99792000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:99788800-99792200	Active TSS	Fetal Lung	lung
34	chr15:99788800-99792200	Active TSS	Ovary	ovary
35	chr15:99788800-99792400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:99788800-99792400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:99788800-99792400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr15:99788800-99792400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr15:99788800-99792400	Active TSS	HMEC	breast
40	chr15:99788800-99792400	Active TSS	NHEK	skin
41	chr15:99788800-99792800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:99788800-99792800	Active TSS	Fetal Stomach	stomach
43	chr15:99789000-99790000	Active TSS	Muscle Satellite Cultured Cells	--
44	chr15:99789000-99790000	Active TSS	Fetal Heart	heart
45	chr15:99789000-99790000	Active TSS	Rectal Smooth Muscle	rectum
46	chr15:99789000-99790000	Active TSS	Osteobl	bone
47	chr15:99789000-99790200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:99789000-99790200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr15:99789000-99790200	Active TSS	Hela-S3	cervix
50	chr15:99789000-99791400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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