Variant report

Variant	rs335682
Chromosome Location	chr15:76194749-76194750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr15:76194434-76194939	K562	blood:	n/a	n/a
2	ATF1	chr15:76194517-76194846	K562	blood:	n/a	n/a
3	IRF1	chr15:76194311-76194995	K562	blood:	n/a	n/a
4	POLR2A	chr15:76194468-76194802	K562	blood:	n/a	n/a
5	ELF1	chr15:76194551-76194810	K562	blood:	n/a	n/a
6	MAZ	chr15:76194424-76194903	K562	blood:	n/a	n/a
7	NR2F2	chr15:76194428-76194858	K562	blood:	n/a	n/a
8	POLR2A	chr15:76194398-76194899	K562	blood:	n/a	n/a
9	POLR2A	chr15:76194303-76194980	K562	blood:	n/a	n/a
10	JUND	chr15:76194419-76194894	K562	blood:	n/a	n/a
11	MAX	chr15:76194550-76194792	H1-hESC	embryonic stem cell:	n/a	n/a
12	HDAC2	chr15:76194525-76194867	K562	blood:	n/a	n/a
13	EP300	chr15:76194474-76194924	K562	blood:	n/a	n/a
14	UBTF	chr15:76194505-76194882	K562	blood:	n/a	n/a
15	SIN3A	chr15:76194444-76194883	H1-hESC	embryonic stem cell:	n/a	n/a
16	TEAD4	chr15:76194395-76194906	K562	blood:	n/a	n/a
17	MYC	chr15:76194471-76194877	K562	blood:	n/a	n/a
18	CEBPD	chr15:76194455-76194939	K562	blood:	n/a	n/a
19	TCF12	chr15:76194585-76194916	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr15:76194615-76194793	K562	blood:	n/a	n/a
21	ATF2	chr15:76194562-76195025	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr15:76194395-76194930	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr15:76194502-76194789	K562	blood:	n/a	n/a
24	GABPA	chr15:76194534-76194859	K562	blood:	n/a	n/a
25	ARID3A	chr15:76194463-76194804	K562	blood:	n/a	n/a
26	POLR2A	chr15:76194416-76194820	H1-hESC	embryonic stem cell:	n/a	n/a
27	CCNT2	chr15:76194528-76194838	K562	blood:	n/a	n/a
28	TCF12	chr15:76194516-76194954	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr15:76194374-76194854	K562	blood:	n/a	n/a
30	ZNF384	chr15:76194553-76194973	K562	blood:	n/a	n/a
31	SP1	chr15:76194234-76195010	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr15:76194505-76194874	K562	blood:	n/a	n/a
33	TAL1	chr15:76194445-76195264	K562	blood:	n/a	n/a
34	TBP	chr15:76194510-76194889	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3AK20	chr15:76194571-76194791	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr15:76194389-76194930	K562	blood:	n/a	n/a
37	UBTF	chr15:76194640-76195065	K562	blood:	n/a	n/a
38	POLR2A	chr15:76194342-76194961	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:76194331-76194964	K562	blood:	n/a	n/a
40	POLR2A	chr15:76194284-76197130	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr15:76194465-76194848	K562	blood:	n/a	n/a
42	ETS1	chr15:76194546-76194811	K562	blood:	n/a	n/a
43	STAT5A	chr15:76194488-76194836	K562	blood:	n/a	n/a
44	POLR2A	chr15:76193185-76197025	K562	blood:	n/a	n/a
45	MEF2A	chr15:76194393-76194967	K562	blood:	n/a	n/a
46	REST	chr15:76194577-76194806	K562	blood:	n/a	n/a
47	GATA2	chr15:76194407-76194962	K562	blood:	n/a	n/a
48	PML	chr15:76194436-76194998	K562	blood:	n/a	n/a
49	RCOR1	chr15:76194527-76194901	K562	blood:	n/a	n/a
50	STAT5A	chr15:76194406-76194870	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:76135404..76137728-chr15:76192925..76195968,4	K562	blood:
2	chr15:75109652..75112640-chr15:76193633..76196409,2	K562	blood:
3	chr15:76134186..76138083-chr15:76192925..76200499,13	K562	blood:
4	chr15:76194745..76198135-chr15:76223912..76227637,3	MCF-7	breast:
5	chr15:76133681..76139746-chr15:76193985..76199740,23	MCF-7	breast:

No data

Variant related genes	Relation type
FBXO22	TF binding region
ENSG00000140367	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000167196	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1394123	0.82[AFR][1000 genomes]
rs1394124	0.82[AFR][1000 genomes]
rs1699278	0.82[AFR][1000 genomes]
rs1964677	0.82[AFR][1000 genomes]
rs1968623	0.82[AFR][1000 genomes]
rs2028949	0.82[AFR][1000 genomes]
rs335686	0.82[AFR][1000 genomes]
rs335709	0.82[AFR][1000 genomes]
rs335712	0.82[AFR][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	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1044733	chr15:76120924-76228880	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76138200-76195200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:76138200-76195400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:76141400-76195200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:76145200-76195200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:76149000-76195600	Weak transcription	Colonic Mucosa	Colon
6	chr15:76159800-76195400	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:76165600-76194800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:76166400-76195200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:76166400-76195400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:76166400-76195800	Weak transcription	Gastric	stomach
11	chr15:76166600-76195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:76166600-76195400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:76166600-76195800	Weak transcription	Aorta	Aorta
14	chr15:76166800-76195400	Weak transcription	Fetal Intestine Small	intestine
15	chr15:76167000-76195600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:76167000-76195800	Weak transcription	Esophagus	oesophagus
17	chr15:76167200-76195200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:76167200-76195600	Weak transcription	Lung	lung
19	chr15:76167600-76195400	Weak transcription	Brain Angular Gyrus	brain
20	chr15:76168200-76195000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr15:76172000-76195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:76172200-76195600	Weak transcription	Fetal Intestine Large	intestine
23	chr15:76172400-76195200	Weak transcription	Left Ventricle	heart
24	chr15:76172400-76195600	Weak transcription	Ovary	ovary
25	chr15:76176600-76195400	Weak transcription	Fetal Brain Male	brain
26	chr15:76177000-76195200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:76178200-76195200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr15:76178200-76195200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:76180000-76195800	Weak transcription	Small Intestine	intestine
30	chr15:76180200-76195200	Weak transcription	Pancreas	Pancrea
31	chr15:76184400-76195000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:76184400-76195200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr15:76184400-76195200	Weak transcription	A549	lung
34	chr15:76184400-76195200	Weak transcription	GM12878-XiMat	blood
35	chr15:76184400-76195600	Weak transcription	Psoas Muscle	Psoas
36	chr15:76184400-76195600	Weak transcription	Right Atrium	heart
37	chr15:76184600-76195200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:76184600-76195200	Weak transcription	HMEC	breast
39	chr15:76184600-76195400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:76184600-76195400	Weak transcription	Fetal Kidney	kidney
41	chr15:76184800-76194800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:76185200-76195200	Weak transcription	Fetal Brain Female	brain
43	chr15:76185400-76195200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:76185600-76194800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:76187200-76195600	Weak transcription	Fetal Lung	lung
46	chr15:76188200-76195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:76190200-76195600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:76190400-76195400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:76190600-76195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:76191000-76195200	Weak transcription	Primary T cells fromperipheralblood	blood

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