Variant report

Variant	rs2234267
Chromosome Location	chr1:46649918-46649919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:46648665-46650061	ECC-1	luminal epithelium:	n/a	n/a
2	RUNX3	chr1:46649741-46650202	GM12878	blood:	n/a	n/a
3	ELF1	chr1:46649740-46650236	GM12878	blood:	n/a	n/a
4	BHLHE40	chr1:46649882-46650196	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:46648693-46652144	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr1:46649857-46650150	GM12878	blood:	n/a	n/a
7	SP1	chr1:46648441-46650020	HCT-116	colon:	n/a	chr1:46649753-46649774
8	POLR2A	chr1:46648640-46650031	HCT-116	colon:	n/a	n/a
9	POLR2A	chr1:46648645-46650023	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr1:46649783-46650166	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:46648658-46650178	PANC-1	pancreas:	n/a	n/a
12	EBF1	chr1:46649782-46650087	GM12878	blood:	n/a	n/a
13	EBF1	chr1:46649670-46650229	GM12878	blood:	n/a	n/a
14	TCF12	chr1:46648571-46649982	SK-N-SH	brain:	n/a	chr1:46649010-46649018 chr1:46648827-46648835
15	POLR2A	chr1:46649869-46650127	HepG2	liver:	n/a	n/a
16	RUNX3	chr1:46649700-46650455	GM12878	blood:	n/a	n/a
17	MAX	chr1:46649881-46650215	GM12878	blood:	n/a	n/a
18	SPI1	chr1:46649788-46650119	GM12878	blood:	n/a	n/a
19	SP1	chr1:46648502-46650023	HCT-116	colon:	n/a	chr1:46649753-46649774
20	SPI1	chr1:46649830-46650122	GM12891	blood:	n/a	n/a
21	MXI1	chr1:46649824-46650139	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:46648645-46650005	HCT-116	colon:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46592691..46601867-chr1:46642778..46650670,25	MCF-7	breast:
2	chr1:46649178..46652657-chr1:46804646..46808340,3	K562	blood:
3	chr1:46593944..46606364-chr1:46632700..46654752,92	MCF-7	breast:
4	chr1:46649532..46653630-chr1:46654229..46657626,5	K562	blood:
5	chr1:46648153..46649948-chr1:46767534..46769281,2	MCF-7	breast:
6	chr1:46648447..46653398-chr1:46660649..46666552,10	K562	blood:
7	chr1:46645973..46650649-chr1:46685566..46691437,5	MCF-7	breast:

No data

Variant related genes	Relation type
TSPAN1	TF binding region
ENSG00000227857	Chromatin interaction
ENSG00000085998	Chromatin interaction
ENSG00000117461	Chromatin interaction
ENSG00000132128	Chromatin interaction
ENSG00000117481	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	72 gene(s)	inside rSNPs	diseases
5	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1006530	chr1:46544842-46655484	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv534949	chr1:46544842-46655484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv527878	chr1:46649046-46660295	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46639400-46653800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:46639600-46652800	Weak transcription	Brain Germinal Matrix	brain
3	chr1:46640800-46656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:46644800-46651400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:46645000-46651400	Enhancers	Fetal Thymus	thymus
6	chr1:46645200-46650200	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:46645200-46651400	Enhancers	Pancreas	Pancrea
8	chr1:46645200-46657800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:46645400-46650600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:46645400-46652200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:46645600-46650400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:46645600-46650400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:46645600-46650800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:46645600-46652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:46645600-46653200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:46645600-46653600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:46645600-46658200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:46645800-46663200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:46646000-46652800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:46646000-46653200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:46646000-46654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:46646000-46657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:46646200-46650800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:46646200-46652800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:46646400-46650200	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:46646400-46650400	Weak transcription	K562	blood
27	chr1:46646400-46650800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:46646800-46650000	Enhancers	Fetal Muscle Leg	muscle
29	chr1:46646800-46650400	Enhancers	A549	lung
30	chr1:46647000-46650000	Enhancers	NHDF-Ad	bronchial
31	chr1:46647000-46650600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:46647000-46651400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:46647000-46653400	Weak transcription	Fetal Brain Male	brain
34	chr1:46647200-46650200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:46647200-46650200	Enhancers	NH-A	brain
36	chr1:46647200-46651400	Enhancers	HSMM	muscle
37	chr1:46647200-46653000	Weak transcription	Fetal Brain Female	brain
38	chr1:46647400-46651600	Enhancers	Spleen	Spleen
39	chr1:46647600-46650200	Enhancers	Fetal Intestine Large	intestine
40	chr1:46648000-46650000	Weak transcription	Primary B cells from cord blood	blood
41	chr1:46648000-46653000	Weak transcription	Dnd41	blood
42	chr1:46648200-46650600	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:46648400-46650200	Flanking Active TSS	Hela-S3	cervix
44	chr1:46648400-46651000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:46648400-46652200	Enhancers	Left Ventricle	heart
46	chr1:46648400-46657800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:46648600-46650000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:46648600-46653400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:46648800-46650000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:46648800-46650600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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