Variant report

Variant	rs7805164
Chromosome Location	chr7:5741998-5741999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5734503..5737746-chr7:5737831..5742522,7	MCF-7	breast:
2	chr7:5731961..5734457-chr7:5739866..5742131,3	MCF-7	breast:
3	chr7:5740407..5742553-chr7:5742668..5744217,2	K562	blood:
4	chr7:5741868..5743994-chr7:5746945..5748590,2	MCF-7	breast:
5	chr7:5740535..5742233-chr7:5749544..5751969,2	K562	blood:
6	chr7:5564232..5566290-chr7:5741768..5743485,2	K562	blood:
7	chr7:5600811..5603453-chr7:5741845..5743393,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10256234	0.88[EUR][1000 genomes]
rs11974907	0.88[EUR][1000 genomes]
rs12112160	1.00[CEU][hapmap]
rs61753114	0.94[EUR][1000 genomes]
rs6948331	0.82[ASW][hapmap]
rs6956890	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73338062	0.82[AFR][1000 genomes]
rs73338074	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
8	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
10	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
17	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5723400-5766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:5732600-5747600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:5734200-5743400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:5735600-5742000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:5735600-5742000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:5735600-5742000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:5735800-5742000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr7:5735800-5744200	Enhancers	Brain Angular Gyrus	brain
9	chr7:5735800-5744200	Enhancers	Brain Anterior Caudate	brain
10	chr7:5735800-5746000	Weak transcription	HUVEC	blood vessel
11	chr7:5736400-5742400	Weak transcription	Fetal Brain Male	brain
12	chr7:5737200-5743200	Enhancers	Brain Substantia Nigra	brain
13	chr7:5737200-5748400	Weak transcription	Colonic Mucosa	Colon
14	chr7:5737400-5767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:5737600-5774200	Strong transcription	Dnd41	blood
16	chr7:5738000-5748200	Weak transcription	Small Intestine	intestine
17	chr7:5738800-5742600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:5739200-5743000	Strong transcription	Liver	Liver
19	chr7:5739200-5744000	Genic enhancers	A549	lung
20	chr7:5739400-5742200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:5739600-5742000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:5739600-5743200	Strong transcription	Lung	lung
23	chr7:5739600-5743400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:5739600-5769600	Strong transcription	Fetal Intestine Large	intestine
25	chr7:5739800-5742400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr7:5739800-5742400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:5739800-5742600	Weak transcription	Fetal Kidney	kidney
28	chr7:5740000-5742600	Enhancers	Primary T cells from cord blood	blood
29	chr7:5740000-5743000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:5740000-5743000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:5740000-5743000	Strong transcription	HepG2	liver
32	chr7:5740000-5743800	Weak transcription	Stomach Mucosa	stomach
33	chr7:5740000-5760800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:5740200-5743200	Strong transcription	Fetal Intestine Small	intestine
35	chr7:5740400-5742000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:5740400-5742400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:5740400-5742400	Strong transcription	Placenta	Placenta
38	chr7:5740400-5742600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:5740400-5742800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:5740400-5742800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:5740400-5743200	Strong transcription	Gastric	stomach
42	chr7:5740400-5743400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:5740600-5742000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr7:5740600-5742400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:5740600-5742400	Strong transcription	Fetal Muscle Leg	muscle
46	chr7:5740600-5742800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:5740600-5742800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:5740600-5742800	Strong transcription	Fetal Brain Female	brain
49	chr7:5740600-5742800	Strong transcription	NHLF	lung
50	chr7:5740600-5743000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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