Variant report

Variant	rs6872176
Chromosome Location	chr5:61698309-61698310
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr5:61698279-61698717	GM12878	blood:	n/a	n/a
2	ATF2	chr5:61698223-61698688	GM12878	blood:	n/a	n/a
3	ATF2	chr5:61698225-61698704	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:61697820-61700282	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:61697842-61700273	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72519248..72520809-chr5:61697872..61699713,2	MCF-7	breast:
2	chr5:61685307..61687523-chr5:61697635..61699406,2	K562	blood:
3	chr5:61686012..61687975-chr5:61698243..61700042,2	MCF-7	breast:
4	chr5:61696503..61703698-chr5:61706632..61711868,15	MCF-7	breast:
5	chr5:61601759..61603415-chr5:61698105..61699743,2	K562	blood:
6	chr5:61696900..61702493-chr5:61705289..61710261,23	K562	blood:
7	chr5:61679991..61682016-chr5:61697548..61699312,2	MCF-7	breast:
8	chr5:61601492..61604171-chr5:61697960..61699657,3	K562	blood:
9	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
10	chr5:61686508..61688949-chr5:61697910..61699480,2	MCF-7	breast:
11	chr5:61601958..61603491-chr5:61698096..61700949,2	MCF-7	breast:
12	chr5:61571856..61574619-chr5:61696505..61699367,2	K562	blood:

No data

Variant related genes	Relation type
IPO11	TF binding region
ENSG00000086189	Chromatin interaction
ENSG00000068796	Chromatin interaction
ENSG00000086200	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55758795	1.00[AMR][1000 genomes]
rs56200376	1.00[AMR][1000 genomes]
rs56937297	1.00[AMR][1000 genomes]
rs57890556	1.00[AMR][1000 genomes]
rs59072343	1.00[AMR][1000 genomes]
rs6893907	1.00[AMR][1000 genomes]
rs73760587	1.00[AMR][1000 genomes]
rs73760807	1.00[AMR][1000 genomes]
rs73760827	1.00[AMR][1000 genomes]
rs73760830	1.00[AMR][1000 genomes]
rs73760842	1.00[AMR][1000 genomes]
rs7706497	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr5:61642600-61699200	Weak transcription	Gastric	stomach
2	chr5:61665400-61699000	Weak transcription	Esophagus	oesophagus
3	chr5:61672000-61698600	Weak transcription	Stomach Mucosa	stomach
4	chr5:61676800-61699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:61682200-61699000	Weak transcription	Colonic Mucosa	Colon
6	chr5:61684200-61698400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr5:61690400-61698800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:61690400-61699000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:61690400-61699000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:61690600-61698800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:61692400-61698400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:61694600-61698400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:61696400-61698400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:61696600-61698400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:61696800-61699000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:61697000-61698400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:61697000-61698600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr5:61697000-61699000	Weak transcription	Placenta	Placenta
19	chr5:61697200-61698400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:61697200-61698400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:61697200-61698400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:61697200-61698600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:61697200-61698600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:61697200-61698800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr5:61697200-61698800	Weak transcription	Thymus	Thymus
26	chr5:61697200-61699000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:61697200-61699000	Weak transcription	Fetal Thymus	thymus
28	chr5:61697200-61699000	Weak transcription	Left Ventricle	heart
29	chr5:61697200-61699000	Weak transcription	Lung	lung
30	chr5:61697200-61699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:61697200-61699200	Weak transcription	Spleen	Spleen
32	chr5:61697400-61699000	Weak transcription	Pancreas	Pancrea
33	chr5:61697400-61699200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:61697800-61698400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:61697800-61698400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr5:61697800-61698400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:61697800-61698400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:61697800-61698400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:61697800-61698400	Enhancers	Brain Substantia Nigra	brain
40	chr5:61697800-61698400	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr5:61697800-61698400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
42	chr5:61697800-61698400	Transcr. at gene 5' and 3'	HSMM	muscle
43	chr5:61697800-61698400	Flanking Active TSS	NHDF-Ad	bronchial
44	chr5:61697800-61698600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr5:61697800-61698600	Enhancers	Aorta	Aorta
46	chr5:61697800-61698600	Genic enhancers	Liver	Liver
47	chr5:61697800-61698600	Enhancers	Small Intestine	intestine
48	chr5:61697800-61698600	Flanking Active TSS	HMEC	breast
49	chr5:61697800-61698800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:61697800-61698800	Enhancers	Cortex derived primary cultured neurospheres	brain

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