Variant report

Variant	rs7540155
Chromosome Location	chr1:227477537-227477538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227472633..227474570-chr1:227477067..227478764,2	K562	blood:
2	chr1:227472840..227475102-chr1:227475698..227478764,3	K562	blood:
3	chr1:227477234..227482232-chr1:227484947..227488828,5	K562	blood:
4	chr1:227477181..227481565-chr1:227505488..227508633,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10495256	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs12118840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513617	0.92[ASN][1000 genomes]
rs1849550	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2670470	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2718191	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2718214	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2718220	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2718223	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2813955	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2813956	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2813957	0.84[EUR][1000 genomes]
rs2813977	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2953640	0.94[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs4233225	0.81[ASN][1000 genomes]
rs4375224	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6426584	1.00[JPT][hapmap]
rs6426596	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72755321	0.83[EUR][1000 genomes]
rs7540391	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7540618	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs938257	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs9700661	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3453491	chr1:227462942-227482283	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3453492	chr1:227462956-227482280	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
2	chr1:227462600-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:227467200-227485800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:227469200-227477600	Weak transcription	Psoas Muscle	Psoas
5	chr1:227469200-227500200	Weak transcription	Left Ventricle	heart
6	chr1:227469200-227502600	Weak transcription	HSMM	muscle
7	chr1:227469600-227501800	Weak transcription	Fetal Stomach	stomach
8	chr1:227470600-227483000	Weak transcription	Stomach Mucosa	stomach
9	chr1:227470600-227485800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:227473800-227486200	Weak transcription	Aorta	Aorta
11	chr1:227474000-227478200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:227474200-227486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:227474600-227486000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:227474800-227485800	Weak transcription	HUVEC	blood vessel
15	chr1:227474800-227486200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:227474800-227486200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:227475000-227484200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:227475000-227486200	Weak transcription	HMEC	breast
19	chr1:227475000-227491800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:227475000-227502000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:227475200-227500200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:227475800-227484800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:227475800-227485200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:227475800-227486400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:227476000-227479200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:227476200-227486200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:227477000-227478000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:227477000-227478000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:227477000-227486200	Weak transcription	Brain Anterior Caudate	brain
30	chr1:227477200-227485000	Weak transcription	K562	blood

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