Variant report

Variant	rs2297747
Chromosome Location	chr1:225686025-225686026
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	chr1:225684757..225686780-chr1:225840497..225842307,2	MCF-7	breast:
2	chr1:225674187..225676643-chr1:225684973..225688505,3	K562	blood:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11377355	0.83[ASN][1000 genomes]
rs12022013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12031208	1.00[ASN][1000 genomes]
rs12031651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12037289	0.83[ASN][1000 genomes]
rs12042273	0.83[ASN][1000 genomes]
rs12042698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12044621	1.00[CEU][hapmap]
rs16845000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2184778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2185531	0.83[ASN][1000 genomes]
rs3766931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3795443	1.00[CHB][hapmap]
rs4129816	0.85[ASN][1000 genomes]
rs56169721	0.83[ASN][1000 genomes]
rs6674621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs74149835	0.83[ASN][1000 genomes]
rs74149844	0.83[ASN][1000 genomes]
rs7543444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv873227	chr1:225656388-225687981	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv8880	chr1:225656408-225687710	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv826842	chr1:225658062-225686586	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv433350	chr1:225665284-225686025	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv873228	chr1:225665284-225687981	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv2756886	chr1:225665694-225703485	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv2759003	chr1:225665694-225703485	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv873230	chr1:225668524-225687981	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv4720	chr1:225673218-225718009	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225663200-225686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:225663200-225696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:225666000-225696800	Weak transcription	Esophagus	oesophagus
4	chr1:225669000-225687800	Weak transcription	Placenta	Placenta
5	chr1:225669800-225696800	Weak transcription	Pancreas	Pancrea
6	chr1:225670800-225686400	Weak transcription	Ovary	ovary
7	chr1:225670800-225688400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:225672200-225696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:225672200-225696800	Weak transcription	Brain Germinal Matrix	brain
10	chr1:225672800-225693800	Weak transcription	Left Ventricle	heart
11	chr1:225673600-225693800	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:225673800-225686400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:225674400-225696800	Weak transcription	Aorta	Aorta
14	chr1:225674800-225693800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:225675200-225687400	Weak transcription	Stomach Mucosa	stomach
16	chr1:225676200-225696400	Weak transcription	Gastric	stomach
17	chr1:225677000-225686600	Weak transcription	Fetal Stomach	stomach
18	chr1:225677200-225686400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:225677200-225688400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:225677200-225688400	Weak transcription	Brain Anterior Caudate	brain
21	chr1:225677200-225696000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:225677200-225696400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:225677200-225696400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:225677200-225696400	Weak transcription	Brain Substantia Nigra	brain
25	chr1:225677200-225696400	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:225677200-225696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:225677200-225696600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:225677200-225696600	Weak transcription	Psoas Muscle	Psoas
29	chr1:225677200-225703600	Weak transcription	Fetal Brain Female	brain
30	chr1:225677400-225686200	Weak transcription	NHLF	lung
31	chr1:225679400-225686200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:225679600-225696000	Weak transcription	Hela-S3	cervix
33	chr1:225680000-225690600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:225680200-225686400	Strong transcription	Osteobl	bone
35	chr1:225680200-225695600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:225680200-225696200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:225680800-225691000	Strong transcription	NH-A	brain
38	chr1:225680800-225696200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:225681200-225686400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:225681200-225696200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:225681600-225688200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:225681800-225699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:225682200-225686400	Strong transcription	Fetal Lung	lung
44	chr1:225682200-225688000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:225682200-225688400	Weak transcription	NHEK	skin
46	chr1:225683000-225696000	Weak transcription	HMEC	breast
47	chr1:225683000-225696800	Weak transcription	Lung	lung
48	chr1:225683200-225693800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:225683400-225693800	Weak transcription	Liver	Liver
50	chr1:225683400-225696600	Weak transcription	Right Ventricle	heart

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