Variant report

Variant	rs7208490
Chromosome Location	chr17:46186333-46186334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46185296-46189875	K562	blood:	n/a	n/a
2	SIN3AK20	chr17:46184051-46186425	MCF-7	breast:	n/a	n/a
3	POLR2A	chr17:46185925-46186517	GM12892	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46032611..46035777-chr17:46183682..46186625,3	MCF-7	breast:
2	chr17:46175023..46180196-chr17:46181333..46189268,23	MCF-7	breast:
3	chr17:46185336..46187355-chr6:44217982..44220067,2	MCF-7	breast:
4	chr17:46124892..46127654-chr17:46182877..46187326,5	K562	blood:
5	chr17:46123538..46128867-chr17:46183649..46187295,7	MCF-7	breast:
6	chr17:46132648..46135293-chr17:46184683..46187431,2	K562	blood:
7	chr17:46184602..46186632-chr17:46186895..46189927,3	MCF-7	breast:
8	chr17:46124455..46126784-chr17:46185415..46187285,2	MCF-7	breast:
9	chr17:46177349..46182213-chr17:46183318..46186399,5	K562	blood:
10	chr17:46125014..46129511-chr17:46182877..46189561,8	K562	blood:
11	chr17:46174648..46181471-chr17:46183317..46187457,20	MCF-7	breast:
12	chr17:46177349..46180853-chr17:46182060..46186447,10	K562	blood:

No data

Variant related genes	Relation type
SNX11	TF binding region
ENSG00000263412	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16953055	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16953361	1.00[YRI][hapmap]
rs16953800	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16953909	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16953910	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16954469	0.89[YRI][hapmap]
rs16955049	0.90[YRI][hapmap]
rs17620866	1.00[YRI][hapmap]
rs17694404	1.00[YRI][hapmap]
rs2875747	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs34033530	1.00[EUR][1000 genomes]
rs34958507	1.00[EUR][1000 genomes]
rs4793760	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4794402	1.00[YRI][hapmap]
rs7223389	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8076309	0.88[YRI][hapmap]
rs8077950	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9747665	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv112217	chr17:46182711-46190093	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46184200-46186400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr17:46184200-46186400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr17:46184200-46186400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr17:46184200-46186400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:46184200-46186400	Active TSS	NHLF	lung
6	chr17:46184200-46186800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr17:46184400-46186400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:46184400-46186400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr17:46184400-46186400	Active TSS	HSMM	muscle
10	chr17:46184400-46186600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr17:46184400-46187200	Active TSS	GM12878-XiMat	blood
12	chr17:46185400-46186400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:46185400-46186400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:46185400-46186400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr17:46185400-46186600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr17:46185600-46186400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:46185600-46186400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:46185600-46186400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr17:46185600-46186400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr17:46185600-46186400	Flanking Active TSS	Dnd41	blood
21	chr17:46185600-46186600	Weak transcription	Spleen	Spleen
22	chr17:46185600-46191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:46185800-46186400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:46185800-46186400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:46185800-46186400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:46185800-46186400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr17:46185800-46186400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr17:46185800-46186400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr17:46185800-46186400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:46185800-46186400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:46185800-46186400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:46185800-46186400	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr17:46185800-46186400	Flanking Active TSS	Fetal Brain Female	brain
34	chr17:46185800-46186400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr17:46185800-46186400	Enhancers	Small Intestine	intestine
36	chr17:46185800-46186400	Flanking Active TSS	Hela-S3	cervix
37	chr17:46185800-46186400	Flanking Active TSS	NHEK	skin
38	chr17:46185800-46188200	Weak transcription	Left Ventricle	heart
39	chr17:46185800-46188200	Weak transcription	Pancreas	Pancrea
40	chr17:46185800-46190000	Weak transcription	Lung	lung
41	chr17:46185800-46193000	Weak transcription	Gastric	stomach
42	chr17:46185800-46195800	Weak transcription	Ovary	ovary
43	chr17:46186000-46186400	Enhancers	Primary hematopoietic stem cells	blood
44	chr17:46186000-46186400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:46186000-46186400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr17:46186000-46186400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr17:46186000-46186400	Flanking Active TSS	HMEC	breast
48	chr17:46186000-46186400	Flanking Active TSS	K562	blood
49	chr17:46186000-46186600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:46186000-46186600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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