Variant report

Variant	rs71350102
Chromosome Location	chr2:152367159-152367160
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152366454..152368368-chr2:152374730..152376370,2	MCF-7	breast:
2	chr2:152364952..152367436-chr2:152369913..152371576,2	K562	blood:

Variant related genes	Relation type
ENSG00000183091	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13021010	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34446552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35266169	1.00[AMR][1000 genomes]
rs35625172	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35943488	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56805351	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56874864	0.85[AFR][1000 genomes]
rs71415141	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv933869	chr2:152308156-152391576	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	esv3693428	chr2:152320932-152434896	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152324200-152382400	Weak transcription	Aorta	Aorta
3	chr2:152326400-152367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:152338200-152370000	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:152340400-152371000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:152341600-152390600	Weak transcription	Left Ventricle	heart
7	chr2:152343200-152422200	Weak transcription	Primary B cells from cord blood	blood
8	chr2:152343400-152371000	Weak transcription	Adipose Nuclei	Adipose
9	chr2:152343400-152373000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:152346200-152370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:152347000-152387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:152348600-152369600	Weak transcription	K562	blood
13	chr2:152348800-152400800	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:152349400-152370000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:152353200-152367600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:152355400-152368200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:152356200-152369200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:152358600-152394000	Weak transcription	Spleen	Spleen
19	chr2:152359400-152382200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr2:152359800-152376400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr2:152360400-152376000	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:152360800-152424400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:152361000-152387800	Strong transcription	HSMMtube	muscle
24	chr2:152362000-152367400	Weak transcription	Psoas Muscle	Psoas
25	chr2:152363200-152391800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:152364600-152377600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:152365200-152385200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:152365200-152415600	Weak transcription	Fetal Intestine Small	intestine
29	chr2:152365400-152377000	Weak transcription	Placenta	Placenta
30	chr2:152365400-152377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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