Variant report

Variant	rs738942
Chromosome Location	chr22:34189253-34189254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34188517..34191299-chr22:34192329..34196152,3	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs110689	1.00[CHB][hapmap]
rs13056817	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs173237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2018743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs238857	1.00[CHB][hapmap]
rs238859	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs238862	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs238863	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2413200	0.81[EUR][1000 genomes]
rs2413201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28374	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2899213	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379239	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs412701	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs415551	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs419898	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs424576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs424784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs444993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs447336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs454398	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs481698	1.00[CHB][hapmap]
rs4820118	1.00[CHB][hapmap]
rs4821187	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs493192	1.00[CHB][hapmap]
rs496956	1.00[CHB][hapmap];0.99[EUR][1000 genomes]
rs5749665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754698	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5754707	0.81[ASN][1000 genomes]
rs5999109	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs722659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1055203	chr22:34098417-34196685	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1064781	chr22:34152145-34231792	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv2758542	chr22:34169795-34203479	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2758833	chr22:34169795-34203479	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34177000-34204600	Weak transcription	Gastric	stomach
2	chr22:34186000-34202400	Weak transcription	Fetal Intestine Small	intestine
3	chr22:34187800-34189400	Enhancers	Right Ventricle	heart
4	chr22:34187800-34204400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:34188000-34191000	Enhancers	Left Ventricle	heart
6	chr22:34188200-34190200	Enhancers	Right Atrium	heart
7	chr22:34188400-34190200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr22:34188400-34190400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr22:34188600-34189400	Enhancers	Stomach Mucosa	stomach
10	chr22:34188600-34189800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:34188600-34190600	Enhancers	Fetal Stomach	stomach
12	chr22:34188600-34191200	Enhancers	Rectal Smooth Muscle	rectum
13	chr22:34188800-34189400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr22:34188800-34189400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:34188800-34189400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:34188800-34189400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:34188800-34189600	Enhancers	Fetal Lung	lung
18	chr22:34188800-34189600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr22:34188800-34189800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:34188800-34190400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:34188800-34196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:34189000-34189400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr22:34189000-34189400	Flanking Active TSS	Ovary	ovary
24	chr22:34189000-34189600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr22:34189000-34189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:34189000-34189600	Enhancers	Adipose Nuclei	Adipose
27	chr22:34189000-34189600	Flanking Active TSS	NHDF-Ad	bronchial
28	chr22:34189000-34189800	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr22:34189000-34189800	Enhancers	Fetal Kidney	kidney
30	chr22:34189000-34190200	Weak transcription	Psoas Muscle	Psoas
31	chr22:34189000-34190400	Enhancers	Brain Anterior Caudate	brain
32	chr22:34189000-34190600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr22:34189200-34189400	Enhancers	Fetal Heart	heart
34	chr22:34189200-34189400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr22:34189200-34189400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:34189200-34189600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr22:34189200-34189600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr22:34189200-34190200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr22:34189200-34190200	Enhancers	GM12878-XiMat	blood
40	chr22:34189200-34190400	Enhancers	Fetal Muscle Leg	muscle
41	chr22:34189200-34190600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:34189200-34192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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