Variant report

Variant	rs7706030
Chromosome Location	chr5:95083466-95083467
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95006572..95009487-chr5:95081876..95084806,3	K562	blood:
2	chr5:95070702..95073107-chr5:95080579..95084239,3	MCF-7	breast:
3	chr5:94985857..94987927-chr5:95082839..95085135,3	K562	blood:
4	chr5:95065910..95068833-chr5:95080789..95083870,5	MCF-7	breast:
5	chr5:94994068..94996717-chr5:95081434..95083739,2	K562	blood:
6	chr5:94981416..94984069-chr5:95082604..95085168,2	K562	blood:
7	chr5:95077185..95079182-chr5:95082308..95084310,2	MCF-7	breast:
8	chr5:95081126..95084367-chr5:95088877..95092929,3	MCF-7	breast:
9	chr5:94985102..94989085-chr5:95082725..95085350,5	K562	blood:
10	chr5:94995217..94997200-chr5:95081141..95083739,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175449	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000250240	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11951853	1.00[ASW][hapmap]
rs17084925	1.00[ASW][hapmap]
rs17085041	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs6556878	1.00[AMR][1000 genomes]
rs6876866	1.00[AMR][1000 genomes]
rs7714523	1.00[AMR][1000 genomes]
rs7719748	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95068200-95095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:95068400-95096200	Weak transcription	Aorta	Aorta
3	chr5:95071200-95084400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:95071200-95094400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:95071400-95087400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:95071400-95094200	Weak transcription	A549	lung
7	chr5:95071600-95087600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:95071800-95085800	Weak transcription	Gastric	stomach
9	chr5:95071800-95096200	Weak transcription	Colonic Mucosa	Colon
10	chr5:95072200-95086200	Weak transcription	HepG2	liver
11	chr5:95072200-95087800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:95072400-95084600	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:95072800-95133400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:95074400-95097200	Weak transcription	Spleen	Spleen
15	chr5:95074800-95094800	Weak transcription	Small Intestine	intestine
16	chr5:95075000-95084800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:95075000-95084800	Weak transcription	Fetal Kidney	kidney
18	chr5:95075000-95086200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:95075000-95086400	Weak transcription	GM12878-XiMat	blood
20	chr5:95075000-95086400	Weak transcription	HUVEC	blood vessel
21	chr5:95075000-95088000	Weak transcription	Fetal Brain Male	brain
22	chr5:95075200-95084600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:95075200-95111800	Weak transcription	Psoas Muscle	Psoas
24	chr5:95075600-95085000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:95075600-95085200	Weak transcription	Fetal Lung	lung
26	chr5:95075800-95084000	Weak transcription	Brain Germinal Matrix	brain
27	chr5:95075800-95084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:95075800-95084600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:95075800-95088000	Weak transcription	Dnd41	blood
30	chr5:95075800-95098600	Weak transcription	Fetal Brain Female	brain
31	chr5:95076000-95084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:95079400-95084600	Weak transcription	Esophagus	oesophagus
33	chr5:95079400-95085800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:95079400-95094600	Weak transcription	Lung	lung
35	chr5:95079600-95085400	Strong transcription	Placenta	Placenta
36	chr5:95080000-95099000	Strong transcription	K562	blood
37	chr5:95080400-95085200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:95080800-95088400	Strong transcription	Hela-S3	cervix
39	chr5:95081000-95084400	Weak transcription	Fetal Intestine Small	intestine
40	chr5:95081000-95085800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:95081600-95084000	Enhancers	Brain Substantia Nigra	brain
42	chr5:95082000-95089000	Strong transcription	Fetal Intestine Large	intestine
43	chr5:95082400-95084800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:95082400-95084800	Enhancers	Brain Anterior Caudate	brain
45	chr5:95082400-95085000	Enhancers	Brain Angular Gyrus	brain
46	chr5:95082400-95095400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:95082600-95084200	Genic enhancers	Liver	Liver
48	chr5:95082600-95084800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:95082600-95085000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr5:95082600-95092800	Strong transcription	Rectal Mucosa Donor 29	rectum

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