Variant report

Variant	rs7624112
Chromosome Location	chr3:101394404-101394405
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr3:101394320-101397368	IMR90	lung:	n/a	chr3:101395299-101395309 chr3:101395419-101395429
2	TBL1XR1	chr3:101394349-101394610	K562	blood:	n/a	n/a
3	POLR2A	chr3:101394371-101397465	IMR90	lung:	n/a	n/a
4	RFX5	chr3:101394257-101396748	SK-N-SH	brain:	n/a	n/a
5	FOXM1	chr3:101394334-101396355	GM12878	blood:	n/a	n/a
6	MXI1	chr3:101394348-101397137	SK-N-SH	brain:	n/a	n/a
7	SIN3AK20	chr3:101394373-101396659	MCF-7	breast:	n/a	n/a
8	SIN3A	chr3:101394382-101396418	H1-hESC	embryonic stem cell:	n/a	chr3:101395192-101395205 chr3:101395232-101395245

No.	Distal block	Cell Line	Cell type
1	chr3:101306571..101308264-chr3:101393626..101395176,2	MCF-7	breast:
2	chr3:101394090..101397025-chr3:101443461..101445928,3	K562	blood:
3	chr3:101291780..101294720-chr3:101394004..101396565,4	K562	blood:
4	chr3:101289369..101294999-chr3:101391357..101396813,8	K562	blood:
5	chr3:101291104..101295547-chr3:101393750..101397705,12	MCF-7	breast:
6	chr3:101293308..101296113-chr3:101394030..101397396,3	MCF-7	breast:
7	chr3:101289588..101293101-chr3:101394155..101396875,5	MCF-7	breast:

Variant related genes	Relation type
ZBTB11-AS1	TF binding region
ENSG00000242299	Chromatin interaction
ENSG00000081154	Chromatin interaction
ENSG00000182504	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13317356	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13317716	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13433837	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16843985	1.00[AMR][1000 genomes]
rs16844031	1.00[AMR][1000 genomes]
rs28812605	0.81[AFR][1000 genomes];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]
rs7625007	1.00[AMR][1000 genomes]
rs7631731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7642697	1.00[AMR][1000 genomes]
rs7647699	1.00[AMR][1000 genomes]
rs7648014	1.00[AMR][1000 genomes]
rs7648758	1.00[AMR][1000 genomes]
rs9290460	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9841608	1.00[AMR][1000 genomes]
rs9872125	1.00[AMR][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	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	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS 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	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 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	chr3:101371000-101394800	Weak transcription	Small Intestine	intestine
2	chr3:101374200-101394600	Weak transcription	Esophagus	oesophagus
3	chr3:101383000-101395000	Weak transcription	Spleen	Spleen
4	chr3:101383600-101394800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:101388200-101394600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:101388800-101394600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:101390200-101394600	Weak transcription	Aorta	Aorta
8	chr3:101393000-101394600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:101393200-101397600	Active TSS	K562	blood
10	chr3:101393600-101396800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:101393800-101394600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:101393800-101394600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr3:101393800-101394600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:101393800-101394600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:101393800-101394600	Flanking Active TSS	Hela-S3	cervix
16	chr3:101393800-101394600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr3:101393800-101394600	Flanking Active TSS	NHEK	skin
18	chr3:101393800-101394600	Flanking Active TSS	Osteobl	bone
19	chr3:101393800-101394800	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr3:101393800-101394800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr3:101393800-101394800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr3:101393800-101394800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:101393800-101394800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr3:101393800-101394800	Flanking Active TSS	Dnd41	blood
25	chr3:101393800-101394800	Flanking Active TSS	HUVEC	blood vessel
26	chr3:101393800-101396400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr3:101393800-101396600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr3:101393800-101396600	Active TSS	Right Ventricle	heart
29	chr3:101393800-101397000	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr3:101394000-101394600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:101394000-101394600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr3:101394000-101394600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr3:101394000-101394600	Weak transcription	Gastric	stomach
34	chr3:101394000-101394600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:101394000-101394800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr3:101394000-101395000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:101394000-101396200	Active TSS	NH-A	brain
38	chr3:101394000-101396400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:101394000-101396400	Active TSS	HMEC	breast
40	chr3:101394000-101396600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:101394000-101396600	Active TSS	NHLF	lung
42	chr3:101394000-101396800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:101394000-101397200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr3:101394000-101397400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr3:101394200-101394600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:101394200-101394600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr3:101394200-101394600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:101394200-101394600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:101394200-101394600	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr3:101394200-101394600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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