Variant report

Variant	rs35095009
Chromosome Location	chr1:223120586-223120587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17475774	1.00[MKK][hapmap]
rs17477752	0.83[ASN][1000 genomes]
rs17534774	0.91[MKK][hapmap]
rs17536056	0.83[ASN][1000 genomes]
rs17536209	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[MKK][hapmap];0.83[ASN][1000 genomes]
rs17536299	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[MKK][hapmap];0.83[ASN][1000 genomes]
rs17536396	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17536522	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MKK][hapmap];0.83[ASN][1000 genomes]
rs2254155	1.00[ASW][hapmap]
rs28362013	0.84[MKK][hapmap]
rs34229647	1.00[MKK][hapmap]
rs34232799	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34643369	0.83[ASN][1000 genomes]
rs34701716	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34799664	1.00[AFR][1000 genomes]
rs35355763	0.89[ASN][1000 genomes]
rs35506390	1.00[MKK][hapmap]
rs35578837	0.83[ASN][1000 genomes]
rs35912520	0.83[ASN][1000 genomes]
rs35947021	0.83[ASN][1000 genomes]
rs71644720	0.94[ASN][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1828950	chr1:223111708-223132433	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223102200-223128000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:223102200-223130800	Weak transcription	Fetal Brain Male	brain
3	chr1:223102400-223121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:223102600-223121200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:223102800-223124400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:223105000-223128800	Weak transcription	Ovary	ovary
7	chr1:223108000-223120600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:223111600-223122800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:223112600-223126200	Weak transcription	Osteobl	bone
10	chr1:223114200-223129000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:223114200-223130600	Weak transcription	Left Ventricle	heart
12	chr1:223114600-223122800	Weak transcription	Gastric	stomach
13	chr1:223114600-223124400	Weak transcription	Fetal Lung	lung
14	chr1:223114800-223121600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:223114800-223129200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:223115200-223121200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:223115200-223121800	Weak transcription	Fetal Kidney	kidney
18	chr1:223115200-223126600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:223116200-223121000	Strong transcription	Fetal Muscle Leg	muscle
20	chr1:223116600-223123000	Weak transcription	Esophagus	oesophagus
21	chr1:223116600-223126600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:223116800-223121200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:223116800-223123000	Weak transcription	Aorta	Aorta
24	chr1:223116800-223123000	Weak transcription	Pancreas	Pancrea
25	chr1:223116800-223124000	Weak transcription	Stomach Mucosa	stomach
26	chr1:223116800-223128200	Weak transcription	Placenta	Placenta
27	chr1:223116800-223130400	Weak transcription	Liver	Liver
28	chr1:223116800-223130600	Weak transcription	Brain Substantia Nigra	brain
29	chr1:223116800-223135800	Weak transcription	Fetal Intestine Small	intestine
30	chr1:223117000-223121400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:223117000-223123000	Weak transcription	Fetal Intestine Large	intestine
32	chr1:223117000-223123200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:223117000-223123400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:223117000-223125000	Weak transcription	Primary T cells from cord blood	blood
35	chr1:223117000-223126200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:223117000-223127000	Weak transcription	Fetal Brain Female	brain
37	chr1:223117000-223129200	Weak transcription	Brain Anterior Caudate	brain
38	chr1:223117000-223135000	Weak transcription	Primary B cells from cord blood	blood
39	chr1:223117000-223138400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:223117200-223122800	Weak transcription	Adipose Nuclei	Adipose
41	chr1:223117200-223127800	Weak transcription	Fetal Stomach	stomach
42	chr1:223117200-223133800	Weak transcription	Lung	lung
43	chr1:223117600-223125000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:223118200-223121000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:223118200-223121600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:223118200-223124000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:223119000-223120600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:223119200-223131400	Weak transcription	Right Ventricle	heart
49	chr1:223120400-223124400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:223120400-223126600	Weak transcription	Colon Smooth Muscle	Colon

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