Variant report

Variant	rs7648758
Chromosome Location	chr3:101362783-101362784
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr3:101362749-101362869	Hela-S3	cervix:	n/a	n/a
2	TBL1XR1	chr3:101362172-101362906	K562	blood:	n/a	n/a
3	GATA3	chr3:101362329-101363258	SK-N-SH	brain:	n/a	n/a
4	FOS	chr3:101362670-101363233	MCF10A-Er-Src	breast:	n/a	n/a
5	RCOR1	chr3:101361263-101362791	K562	blood:	n/a	n/a
6	NFIC	chr3:101362601-101363127	SK-N-SH	brain:	n/a	n/a
7	SP1	chr3:101362679-101363117	HCT-116	colon:	n/a	n/a
8	SMC3	chr3:101362729-101362947	Hela-S3	cervix:	n/a	n/a
9	YY1	chr3:101362721-101362916	K562	blood:	n/a	n/a
10	MAFK	chr3:101362665-101363005	IMR90	lung:	n/a	n/a
11	EP300	chr3:101361983-101363211	K562	blood:	n/a	n/a
12	POLR2A	chr3:101361957-101363217	K562	blood:	n/a	n/a
13	STAT1	chr3:101362740-101364011	Hela-S3	cervix:	n/a	chr3:101363180-101363191
14	FOS	chr3:101362573-101363296	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr3:101362694-101363132	U87	brain:	n/a	n/a
16	TEAD4	chr3:101361880-101363204	K562	blood:	n/a	n/a
17	GATA1	chr3:101362193-101363194	PBDE	blood:	n/a	n/a
18	PBX3	chr3:101362531-101363109	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr3:101362694-101363085	U87	brain:	n/a	n/a
20	FOSL1	chr3:101362685-101363231	HCT-116	colon:	n/a	n/a
21	YY1	chr3:101362583-101363020	SK-N-SH	brain:	n/a	n/a
22	YY1	chr3:101362652-101363030	SK-N-SH_RA	brain:	n/a	n/a
23	JUND	chr3:101362141-101363007	K562	blood:	n/a	n/a
24	STAT3	chr3:101362777-101363366	MCF10A-Er-Src	breast:	n/a	chr3:101363180-101363191 chr3:101363201-101363212
25	JUN	chr3:101362640-101363174	HUVEC	blood vessel:	n/a	n/a
26	FOS	chr3:101362730-101363172	HUVEC	blood vessel:	n/a	n/a
27	FOSL2	chr3:101362519-101363198	SK-N-SH	brain:	n/a	n/a
28	TCF12	chr3:101362536-101363186	SK-N-SH	brain:	n/a	n/a
29	EP300	chr3:101362668-101363112	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr3:101356898-101363850	K562	blood:	n/a	n/a
31	CEBPB	chr3:101362774-101363016	Hela-S3	cervix:	n/a	n/a
32	JUN	chr3:101362640-101362927	K562	blood:	n/a	n/a
33	MAX	chr3:101362734-101363171	Hela-S3	cervix:	n/a	n/a
34	ARID3A	chr3:101362732-101363021	K562	blood:	n/a	n/a
35	POLR2A	chr3:101362651-101363134	SK-N-SH	brain:	n/a	n/a
36	NFIC	chr3:101362552-101363263	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr3:101362621-101363246	HUVEC	blood vessel:	n/a	n/a
38	GATA2	chr3:101362099-101363277	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr3:101350856-101363203	K562	blood:	n/a	n/a
40	STAT3	chr3:101362644-101363354	MCF10A-Er-Src	breast:	n/a	chr3:101363180-101363191 chr3:101363201-101363212
41	GATA3	chr3:101362299-101363273	SK-N-SH	brain:	n/a	n/a
42	STAT3	chr3:101362781-101363210	Hela-S3	cervix:	n/a	chr3:101363180-101363191
43	PML	chr3:101362486-101362924	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:101360573..101363913-chr3:101365432..101368273,3	K562	blood:
2	chr3:101361008..101362926-chr3:101370600..101373515,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201511	TF binding region
ENSG00000201511	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13317356	1.00[AMR][1000 genomes]
rs13317716	1.00[AMR][1000 genomes]
rs13433837	1.00[AMR][1000 genomes]
rs16843985	1.00[AMR][1000 genomes]
rs16844031	1.00[AMR][1000 genomes]
rs28812605	1.00[AMR][1000 genomes]
rs6776266	1.00[AMR][1000 genomes]
rs6790519	1.00[AMR][1000 genomes]
rs6792530	1.00[AMR][1000 genomes]
rs6795215	1.00[AMR][1000 genomes]
rs6798263	1.00[AMR][1000 genomes]
rs7610644	1.00[AMR][1000 genomes]
rs7611807	1.00[AMR][1000 genomes]
rs7611997	1.00[AMR][1000 genomes]
rs7614614	1.00[AMR][1000 genomes]
rs7619403	1.00[AMR][1000 genomes]
rs7624043	1.00[AMR][1000 genomes]
rs7624112	1.00[AMR][1000 genomes]
rs7625007	1.00[AMR][1000 genomes]
rs7631731	1.00[AMR][1000 genomes]
rs7642697	1.00[AMR][1000 genomes]
rs7647699	1.00[AMR][1000 genomes]
rs7648014	1.00[AMR][1000 genomes]
rs9290460	1.00[AMR][1000 genomes]
rs9841608	1.00[AMR][1000 genomes]
rs9872125	1.00[AMR][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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv511216	chr3:101349644-101366921	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101350600-101366800	Weak transcription	Fetal Brain Female	brain
2	chr3:101354800-101366800	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:101355000-101366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:101355200-101363000	Weak transcription	Fetal Thymus	thymus
5	chr3:101355200-101365000	Weak transcription	Right Atrium	heart
6	chr3:101355200-101367400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:101355200-101367600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:101355600-101366400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:101355600-101366600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:101355600-101366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:101355600-101366600	Weak transcription	Adipose Nuclei	Adipose
12	chr3:101355600-101367000	Weak transcription	A549	lung
13	chr3:101355600-101367000	Weak transcription	Dnd41	blood
14	chr3:101355600-101367400	Weak transcription	Right Ventricle	heart
15	chr3:101355600-101368600	Weak transcription	GM12878-XiMat	blood
16	chr3:101356000-101367400	Weak transcription	Aorta	Aorta
17	chr3:101357400-101366600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:101357400-101367400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:101357800-101365600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:101357800-101369400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:101359800-101363200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:101361000-101367000	Weak transcription	Placenta	Placenta
23	chr3:101361200-101362800	Weak transcription	Thymus	Thymus
24	chr3:101361200-101363000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr3:101361200-101364800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr3:101361400-101366800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:101361600-101365200	Weak transcription	Liver	Liver
28	chr3:101361600-101365400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:101361800-101364400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:101362000-101362800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:101362000-101363200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:101362000-101363200	Enhancers	Hela-S3	cervix
33	chr3:101362000-101363400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:101362000-101363400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:101362000-101364000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr3:101362000-101364400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:101362000-101364400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:101362000-101364800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr3:101362000-101365000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:101362200-101363200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:101362200-101363200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:101362200-101363400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:101362200-101363600	Enhancers	HSMM	muscle
44	chr3:101362200-101363800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:101362200-101363800	Enhancers	Osteobl	bone
46	chr3:101362200-101364000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr3:101362200-101364200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr3:101362200-101364400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr3:101362200-101364600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr3:101362200-101364800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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