Variant report

Variant	rs6731282
Chromosome Location	chr2:74346776-74346777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:74346517-74346792	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr2:74346422-74346875	MCF-7	breast:	n/a	n/a
3	CTCF	chr2:74346660-74346810	HCM	heart:	n/a	n/a
4	ZC3H11A	chr2:74346713-74347930	K562	blood:	n/a	n/a
5	RAD21	chr2:74346514-74346797	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr2:74346680-74346830	HAc	cerebellar:	n/a	n/a
7	CTCF	chr2:74346504-74346809	K562	blood:	n/a	n/a
8	SMC3	chr2:74346530-74346809	GM12878	blood:	n/a	n/a
9	CTCF	chr2:74346640-74346790	A549	lung:	n/a	n/a
10	CTCF	chr2:74346640-74346790	GM06990	blood:	n/a	n/a
11	RAD21	chr2:74346481-74346865	HCT-116	colon:	n/a	n/a
12	RAD21	chr2:74346525-74346868	MCF-7	breast:	n/a	n/a
13	STAT3	chr2:74346493-74346818	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr2:74346689-74347885	MCF10A-Er-Src	breast:	n/a	n/a
15	RAD21	chr2:74346469-74346892	MCF-7	breast:	n/a	n/a
16	HCFC1	chr2:74346486-74348295	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr2:74346499-74346813	GM12878	blood:	n/a	n/a
18	SMC3	chr2:74346551-74346796	HepG2	liver:	n/a	n/a
19	STAT1	chr2:74346543-74346848	Hela-S3	cervix:	n/a	chr2:74346669-74346680
20	CTCF	chr2:74346504-74346895	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:74346323-74348303	A549	lung:	n/a	chr2:74347701-74347714

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74345450..74348977-chr2:74371413..74376785,7	MCF-7	breast:
2	chr2:74346224..74348120-chr2:74425405..74427108,2	MCF-7	breast:
3	chr2:74345117..74347381-chr2:74403458..74405692,2	K562	blood:
4	chr2:74346199..74346887-chr2:74488452..74489322,3	MCF-7	breast:
5	chr2:74345218..74347575-chr2:74362895..74365930,3	MCF-7	breast:
6	chr2:74077294..74080205-chr2:74346163..74349130,2	K562	blood:
7	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:
8	chr2:74346117..74347922-chr2:74374665..74375603,8	MCF-7	breast:
9	chr2:74346450..74347357-chr2:74378287..74379222,5	MCF-7	breast:
10	chr2:74153590..74155495-chr2:74346048..74348829,2	MCF-7	breast:
11	chr2:74228214..74230441-chr2:74345373..74347359,2	MCF-7	breast:
12	chr2:74346321..74348591-chr2:74373615..74376560,4	MCF-7	breast:
13	chr2:74345336..74350949-chr2:74424473..74426826,5	K562	blood:
14	chr2:74211217..74213609-chr2:74345958..74348496,2	MCF-7	breast:
15	chr2:74341140..74342698-chr2:74345165..74347541,2	MCF-7	breast:
16	chr2:74346058..74349268-chr2:74424477..74426947,5	K562	blood:
17	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
18	chr2:74345940..74348146-chr2:74432915..74434982,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073263.1-3	chr2:74345408-74349576	NONHSAT071660

No data

Variant related genes	Relation type
FNBP1P1	TF binding region
ENSG00000065911	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000187605	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17009632	1.00[CEU][hapmap]
rs4429500	0.92[YRI][hapmap];0.94[AFR][1000 genomes]
rs60330274	0.94[AFR][1000 genomes]
rs61521879	0.94[AFR][1000 genomes]
rs6715351	0.94[AFR][1000 genomes]
rs72909178	0.81[AMR][1000 genomes]
rs72913057	1.00[EUR][1000 genomes]
rs7576762	1.00[EUR][1000 genomes]
rs828894	1.00[CEU][hapmap]
rs828895	1.00[CEU][hapmap]
rs831526	1.00[CEU][hapmap]

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	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
3	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription 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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74329600-74347000	Weak transcription	HSMMtube	muscle
2	chr2:74330200-74347000	Weak transcription	Aorta	Aorta
3	chr2:74330400-74346800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:74330600-74347000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:74330600-74347000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:74330600-74347000	Weak transcription	Pancreas	Pancrea
7	chr2:74330800-74346800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:74330800-74347000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:74331200-74347200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:74332000-74346800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:74332600-74347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:74332600-74347000	Weak transcription	Esophagus	oesophagus
13	chr2:74332800-74346800	Weak transcription	NHEK	skin
14	chr2:74333000-74346800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:74333200-74346800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:74333200-74347000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:74335600-74346800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:74336000-74347000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:74343800-74347000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:74344200-74347400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:74346400-74346800	Enhancers	Dnd41	blood
22	chr2:74346600-74346800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:74346600-74346800	Enhancers	Primary T cells from cord blood	blood
24	chr2:74346600-74346800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:74346600-74346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:74346600-74346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:74346600-74346800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:74346600-74346800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:74346600-74346800	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:74346600-74346800	Active TSS	Hela-S3	cervix
31	chr2:74346600-74347000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:74346600-74347000	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:74346600-74347000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:74346600-74347000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr2:74346600-74347000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr2:74346600-74347000	Enhancers	Brain Angular Gyrus	brain
37	chr2:74346600-74347000	Enhancers	Brain Substantia Nigra	brain
38	chr2:74346600-74347000	Enhancers	Colon Smooth Muscle	Colon
39	chr2:74346600-74347000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr2:74346600-74347000	Flanking Active TSS	A549	lung
41	chr2:74346600-74347000	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:74346600-74347000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr2:74346600-74347000	Enhancers	NHDF-Ad	bronchial
44	chr2:74346600-74347200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr2:74346600-74347200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:74346600-74347200	Flanking Active TSS	HepG2	liver
47	chr2:74346600-74347400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr2:74346600-74347800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:74346600-74347800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr2:74346600-74347800	Active TSS	Fetal Lung	lung

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