Variant report

Variant	rs36102951
Chromosome Location	chr7:127940139-127940140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127940082..127943532-chr7:127944561..127947795,4	K562	blood:
2	chr7:127940019..127941640-chr7:127955342..127957765,2	K562	blood:
3	chr7:127938979..127940740-chr7:127949044..127951138,2	K562	blood:
4	chr7:127940010..127942133-chr7:127944769..127947134,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM28-3	chr7:127937738-127947816	NONHSAT123178

Variant related genes	Relation type
ENSG00000242261	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12532999	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538722	1.00[ASN][1000 genomes]
rs13308097	0.81[ASN][1000 genomes]
rs2402889	0.87[ASN][1000 genomes]
rs4731441	0.81[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016669	chr7:127927963-127948122	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017782	chr7:127928249-127946901	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1019036	chr7:127928441-127948122	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018630	chr7:127928441-127948604	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2764054	chr7:127928453-127948604	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv525319	chr7:127929271-127946173	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127917000-127945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:127917200-127943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:127920200-127945200	Weak transcription	Right Ventricle	heart
4	chr7:127920600-127941000	Weak transcription	Primary T cells from cord blood	blood
5	chr7:127921800-127944400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:127922000-127940600	Weak transcription	Brain Anterior Caudate	brain
7	chr7:127922000-127942000	Weak transcription	Brain Angular Gyrus	brain
8	chr7:127922000-127944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:127922200-127942000	Weak transcription	Left Ventricle	heart
10	chr7:127922200-127942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:127922200-127943000	Weak transcription	Dnd41	blood
12	chr7:127922200-127943200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:127922400-127942000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:127923800-127943200	Weak transcription	Pancreas	Pancrea
15	chr7:127924200-127943800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:127924400-127942200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:127924400-127942200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:127924600-127940600	Weak transcription	A549	lung
19	chr7:127924600-127950000	Weak transcription	Psoas Muscle	Psoas
20	chr7:127926200-127940200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:127926400-127943200	Weak transcription	HSMM	muscle
22	chr7:127926600-127940600	Weak transcription	Liver	Liver
23	chr7:127926600-127941400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:127926800-127940400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:127926800-127941400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:127927000-127940400	Weak transcription	Aorta	Aorta
27	chr7:127927000-127940800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:127927000-127943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:127927000-127944400	Weak transcription	Ovary	ovary
30	chr7:127928800-127944400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:127929000-127941600	Weak transcription	HSMMtube	muscle
32	chr7:127930800-127949200	Weak transcription	Fetal Kidney	kidney
33	chr7:127931200-127941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:127931800-127943200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr7:127932800-127941400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:127935800-127943200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:127937400-127940200	Weak transcription	Fetal Stomach	stomach
38	chr7:127937400-127944400	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:127937600-127940600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:127938000-127941800	Weak transcription	Thymus	Thymus
41	chr7:127938200-127940400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:127938200-127940800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:127938200-127941400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:127938200-127941400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:127938200-127943000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:127938400-127940200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:127938400-127940600	Enhancers	HepG2	liver
48	chr7:127938600-127940400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:127938600-127940800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr7:127938600-127943200	Weak transcription	Monocytes-CD14+_RO01746	blood

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