Variant report

Variant	rs2135613
Chromosome Location	chr4:102044742-102044743
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	chr4:102039346..102042301-chr4:102044157..102045962,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2659536	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2659547	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2659550	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2695206	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2732506	0.81[ASN][1000 genomes]
rs2732516	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2850977	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28791227	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6820738	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs963065	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv879671	chr4:101989816-102048076	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879672	chr4:101989816-102058842	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879674	chr4:102002123-102048076	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
8	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102025000-102048200	Weak transcription	Left Ventricle	heart
2	chr4:102025600-102049200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:102026000-102046400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:102026200-102068600	Weak transcription	Primary T cells from cord blood	blood
5	chr4:102026400-102046000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:102029600-102046600	Weak transcription	Primary B cells from cord blood	blood
7	chr4:102029800-102046200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:102030200-102046000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:102030200-102049200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:102030400-102049600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:102032600-102046400	Weak transcription	Psoas Muscle	Psoas
12	chr4:102036600-102046400	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:102036600-102048000	Weak transcription	Small Intestine	intestine
14	chr4:102036600-102049600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:102037800-102047800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:102037800-102048400	Weak transcription	HMEC	breast
17	chr4:102039800-102048000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:102040600-102046200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:102041000-102046400	Weak transcription	Brain Angular Gyrus	brain
20	chr4:102043400-102046200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:102043400-102046400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:102043400-102046400	Weak transcription	NHDF-Ad	bronchial
23	chr4:102043600-102046600	Weak transcription	Osteobl	bone
24	chr4:102043800-102046400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:102044200-102044800	Enhancers	Brain Anterior Caudate	brain
26	chr4:102044200-102046400	Weak transcription	A549	lung
27	chr4:102044400-102045000	Enhancers	Primary B cells from peripheral blood	blood
28	chr4:102044400-102045000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:102044400-102045200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:102044400-102046600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr4:102044600-102049600	Weak transcription	Spleen	Spleen

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