Variant report

Variant	rs7705530
Chromosome Location	chr5:179190994-179190995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:179190940-179191090	HRPEpiC	eye:	n/a	n/a
2	POLR2A	chr5:179190546-179191395	K562	blood:	n/a	n/a
3	FOXA2	chr5:179190810-179191209	A549	lung:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179146141..179147702-chr5:179190620..179192713,2	MCF-7	breast:
2	chr5:179189824..179191528-chr5:179247114..179249290,2	MCF-7	breast:
3	chr5:179186448..179188654-chr5:179189940..179191704,3	MCF-7	breast:
4	chr5:179158835..179161436-chr5:179188218..179192276,6	MCF-7	breast:
5	chr5:179185016..179191633-chr5:179218101..179224928,12	MCF-7	breast:
6	chr5:179124402..179127168-chr5:179188408..179191090,3	MCF-7	breast:
7	chr5:179190740..179195492-chr5:179198923..179204539,8	MCF-7	breast:
8	chr5:179190822..179197512-chr5:179244986..179249382,7	K562	blood:
9	chr5:179189945..179192800-chr5:179216394..179217969,2	K562	blood:
10	chr5:179158546..179161718-chr5:179184592..179191275,7	MCF-7	breast:
11	chr5:179189040..179191704-chr5:179221605..179224546,3	MCF-7	breast:
12	chr5:179190290..179192462-chr5:179193480..179197848,5	MCF-7	breast:
13	chr5:179189180..179191928-chr5:179192012..179195048,3	K562	blood:
14	chr5:179188774..179192649-chr5:179245020..179250577,7	K562	blood:

No data

Variant related genes	Relation type
MAML1	TF binding region
ENSG00000213316	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11738269	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738720	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11739042	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740569	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11741570	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743232	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11744616	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746924	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11747496	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12522263	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469020	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1469021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17617068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17617710	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34057110	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3756614	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3797762	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41458244	0.97[ASN][1000 genomes]
rs4700838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700840	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55654737	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55827522	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55975622	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56309143	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56335144	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58386410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62404347	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62406176	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62406177	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62406178	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62406181	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62406187	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406219	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406223	0.94[ASN][1000 genomes]
rs6601067	0.86[ASN][1000 genomes]
rs6601072	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6639	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6860716	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6887507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893300	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs6895902	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807339	0.83[ASN][1000 genomes]
rs730012	0.90[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs7444006	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7447159	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7704520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709723	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7715356	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7734102	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7735702	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179174400-179192200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:179182600-179192400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:179183200-179192600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:179186000-179191200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr5:179186000-179192600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:179186400-179191000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:179186400-179191200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr5:179186600-179192400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:179186800-179191000	Enhancers	Fetal Thymus	thymus
10	chr5:179186800-179191400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:179187600-179192200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:179188000-179191400	Enhancers	Duodenum Mucosa	Duodenum
13	chr5:179188000-179192600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:179188200-179191000	Enhancers	Primary B cells from cord blood	blood
15	chr5:179188400-179191000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:179188400-179191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:179188400-179191200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:179188400-179191400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:179188400-179192400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:179188600-179191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:179188600-179191000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:179188600-179191000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr5:179188600-179191000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:179188600-179191000	Enhancers	Small Intestine	intestine
25	chr5:179188600-179191000	Enhancers	Stomach Mucosa	stomach
26	chr5:179188600-179191200	Enhancers	Primary B cells from peripheral blood	blood
27	chr5:179188600-179191200	Enhancers	Brain Hippocampus Middle	brain
28	chr5:179188600-179191200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr5:179188600-179191400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:179188600-179191600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:179188600-179192400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:179188600-179192400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:179188600-179192600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:179188600-179192600	Enhancers	Liver	Liver
35	chr5:179188600-179193000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:179188600-179193000	Enhancers	HMEC	breast
37	chr5:179188600-179193600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:179188800-179191000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:179188800-179191000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:179188800-179191000	Enhancers	Brain Anterior Caudate	brain
41	chr5:179188800-179191000	Enhancers	Colonic Mucosa	Colon
42	chr5:179188800-179191000	Enhancers	Fetal Intestine Large	intestine
43	chr5:179188800-179191000	Enhancers	Fetal Muscle Leg	muscle
44	chr5:179188800-179191000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr5:179188800-179191000	Enhancers	Hela-S3	cervix
46	chr5:179188800-179191200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:179188800-179191200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:179188800-179191200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:179188800-179191200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:179188800-179191200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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