Variant report

Variant	rs6954888
Chromosome Location	chr7:127941318-127941319
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr7:127940151..127942923-chr7:127964464..127966540,2	MCF-7	breast:
4	chr7:127940674..127942545-chr7:127948588..127950322,2	MCF-7	breast:
5	chr7:127941056..127943858-chr7:127948197..127950566,3	K562	blood:
6	chr7:127937053..127939817-chr7:127940949..127943521,2	K562	blood:
7	chr7:127940010..127942133-chr7:127944769..127947134,2	MCF-7	breast:
8	chr7:127941056..127943858-chr7:127948197..127950137,2	K562	blood:

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000242261	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1982402	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28959470	1.00[AMR][1000 genomes]
rs359653	1.00[AMR][1000 genomes]
rs359654	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs359656	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs359657	1.00[AMR][1000 genomes]
rs4728102	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6467172	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6972262	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6979643	1.00[AMR][1000 genomes]
rs7788815	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7811392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs921398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9649515	1.00[AMR][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:108 , 50 per page) page: 1 2 3

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	chr7:127921800-127944400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:127922000-127942000	Weak transcription	Brain Angular Gyrus	brain
6	chr7:127922000-127944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:127922200-127942000	Weak transcription	Left Ventricle	heart
8	chr7:127922200-127942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:127922200-127943000	Weak transcription	Dnd41	blood
10	chr7:127922200-127943200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:127922400-127942000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:127923800-127943200	Weak transcription	Pancreas	Pancrea
13	chr7:127924200-127943800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:127924400-127942200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:127924400-127942200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:127924600-127950000	Weak transcription	Psoas Muscle	Psoas
17	chr7:127926400-127943200	Weak transcription	HSMM	muscle
18	chr7:127926600-127941400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:127926800-127941400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:127927000-127943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:127927000-127944400	Weak transcription	Ovary	ovary
22	chr7:127928800-127944400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:127929000-127941600	Weak transcription	HSMMtube	muscle
24	chr7:127930800-127949200	Weak transcription	Fetal Kidney	kidney
25	chr7:127931200-127941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:127931800-127943200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:127932800-127941400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:127935800-127943200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:127937400-127944400	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:127938000-127941800	Weak transcription	Thymus	Thymus
31	chr7:127938200-127941400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:127938200-127941400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:127938200-127943000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:127938600-127943200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:127938600-127944400	Weak transcription	Placenta	Placenta
36	chr7:127938600-127945800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:127938800-127941600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:127938800-127944000	Weak transcription	Brain Substantia Nigra	brain
39	chr7:127938800-127946000	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:127939000-127942000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:127939000-127943000	Weak transcription	Primary B cells from cord blood	blood
42	chr7:127939200-127941600	Weak transcription	Spleen	Spleen
43	chr7:127939200-127943400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:127939400-127941600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:127939400-127941600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:127939400-127942000	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:127939400-127943200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:127939400-127943200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:127939400-127943200	Weak transcription	Colonic Mucosa	Colon
50	chr7:127939400-127943200	Weak transcription	Duodenum Mucosa	Duodenum

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