Variant report

Variant	rs17219057
Chromosome Location	chr2:148723912-148723913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148722716..148725522-chr2:148725582..148727272,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1227305	0.90[EUR][1000 genomes]
rs17218875	1.00[AFR][1000 genomes]
rs17218910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2307397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7601098	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1000246	chr2:148669162-148780280	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv535968	chr2:148669162-148780280	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1004169	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv535970	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
3	chr2:148679600-148737200	Weak transcription	Hela-S3	cervix
4	chr2:148681000-148729600	Weak transcription	NHDF-Ad	bronchial
5	chr2:148683000-148725200	Weak transcription	Fetal Heart	heart
6	chr2:148688200-148728600	Weak transcription	NH-A	brain
7	chr2:148691000-148734600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:148693800-148724200	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:148694000-148725400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:148694000-148731400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:148694400-148725400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:148694400-148738400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:148694400-148741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:148694400-148741200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:148694600-148731600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:148695000-148746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:148698000-148734000	Weak transcription	Brain Angular Gyrus	brain
19	chr2:148701000-148728200	Weak transcription	Osteobl	bone
20	chr2:148701000-148730200	Weak transcription	Placenta	Placenta
21	chr2:148707600-148732200	Weak transcription	Stomach Mucosa	stomach
22	chr2:148709000-148738400	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:148709200-148725000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:148709200-148725400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:148709200-148726400	Weak transcription	Fetal Kidney	kidney
26	chr2:148709200-148737800	Weak transcription	Fetal Brain Male	brain
27	chr2:148709200-148747600	Weak transcription	Adipose Nuclei	Adipose
28	chr2:148709400-148731800	Weak transcription	Left Ventricle	heart
29	chr2:148709400-148732000	Weak transcription	HUVEC	blood vessel
30	chr2:148709400-148735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:148709400-148776800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:148709600-148725200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:148709600-148726000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:148709600-148741400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:148709800-148725400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:148709800-148747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:148712400-148724400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:148713200-148729800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:148713600-148735000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:148715600-148724400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:148715600-148725400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:148715600-148734800	Weak transcription	HSMM	muscle
43	chr2:148715800-148724200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:148715800-148725400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:148715800-148729200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:148716000-148725200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:148720000-148735600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:148720000-148736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:148720400-148724200	Weak transcription	Liver	Liver
50	chr2:148720600-148735200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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