Variant report

Variant	rs4417070
Chromosome Location	chr1:9940893-9940894
allele	C/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	SPI1	chr1:9940775-9940925	GM12878	blood:	n/a	n/a
2	SPI1	chr1:9940444-9940989	GM12878	blood:	n/a	n/a
3	SPI1	chr1:9940733-9941112	GM12891	blood:	n/a	n/a
4	SPI1	chr1:9940651-9940998	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9938308..9941102-chr1:9950921..9954538,4	MCF-7	breast:
2	chr1:9939603..9941923-chr1:9943060..9945342,2	K562	blood:
3	chr1:9940644..9943177-chr1:9967907..9970877,2	K562	blood:
4	chr1:9937046..9938732-chr1:9940830..9942579,2	K562	blood:

Variant related genes	Relation type
CTNNBIP1	TF binding region
ENSG00000178585	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17034420	0.84[ASW][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs6541068	0.94[ASW][hapmap];0.98[LWK][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6660069	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681118	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6686710	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6695334	0.89[ASW][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs72858042	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858053	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054138	0.81[AMR][1000 genomes]
rs7529783	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9904800-9946000	Weak transcription	Fetal Kidney	kidney
2	chr1:9918600-9943800	Weak transcription	Small Intestine	intestine
3	chr1:9927600-9941800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:9930200-9941800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:9930800-9942200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:9930800-9949600	Weak transcription	Fetal Lung	lung
7	chr1:9932000-9942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:9932200-9941800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:9932200-9942200	Weak transcription	Thymus	Thymus
10	chr1:9932200-9942800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:9932600-9942600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:9932600-9960200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:9932800-9942200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:9933000-9946000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:9935400-9941800	Weak transcription	NHLF	lung
16	chr1:9935400-9942000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:9935400-9942600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:9935400-9942800	Weak transcription	Colonic Mucosa	Colon
19	chr1:9935400-9944200	Weak transcription	Ovary	ovary
20	chr1:9935400-9948800	Weak transcription	Primary B cells from cord blood	blood
21	chr1:9935600-9941000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:9935600-9941600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:9935600-9941600	Weak transcription	HSMM	muscle
24	chr1:9935600-9941800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:9935600-9941800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:9935600-9942200	Weak transcription	Lung	lung
27	chr1:9935600-9943400	Weak transcription	Pancreas	Pancrea
28	chr1:9935600-9948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:9935600-9949200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:9935600-9949400	Weak transcription	HUVEC	blood vessel
31	chr1:9935600-9950200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:9935600-9960800	Weak transcription	Fetal Intestine Large	intestine
33	chr1:9935800-9942000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:9935800-9944200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:9935800-9946200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:9935800-9946600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:9935800-9950800	Weak transcription	Aorta	Aorta
38	chr1:9936000-9941600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:9936000-9941800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:9936000-9943000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:9936000-9946200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:9936000-9948800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:9936000-9950000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:9936000-9950000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:9936200-9949800	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:9936400-9960200	Weak transcription	Liver	Liver
47	chr1:9937000-9941800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:9937200-9950000	Weak transcription	Fetal Brain Male	brain
49	chr1:9937400-9943800	Weak transcription	Brain Anterior Caudate	brain
50	chr1:9937400-9944800	Weak transcription	Right Atrium	heart

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