Variant report

Variant	rs72861861
Chromosome Location	chr4:74031095-74031096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:74031092-74031252	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:74030754-74032467	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:74028962..74031937-chr4:74045669..74047435,2	K562	blood:
2	chr4:74029391..74031667-chr4:74035341..74038120,3	K562	blood:
3	chr4:73970811..73973172-chr4:74028857..74031698,2	K562	blood:
4	chr4:74030620..74034303-chr4:74034423..74038254,3	MCF-7	breast:
5	chr4:74030840..74033690-chr4:74081965..74083470,2	K562	blood:
6	chr4:74030007..74032415-chr4:74070930..74073778,2	K562	blood:
7	chr4:74029082..74031220-chr4:74040346..74042692,2	MCF-7	breast:
8	chr4:74021484..74028247-chr4:74029522..74035409,7	K562	blood:
9	chr4:74028581..74032881-chr4:74033688..74038120,5	K562	blood:
10	chr4:74030522..74032070-chr4:74034879..74036523,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANKRD17	TF binding region
ENSG00000132466	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10028486	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11933644	0.81[ASN][1000 genomes]
rs16849102	0.85[EUR][1000 genomes]
rs16849106	0.85[EUR][1000 genomes]
rs16849108	0.85[EUR][1000 genomes]
rs16849150	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16849151	0.87[EUR][1000 genomes]
rs16849172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16849185	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2061574	0.85[EUR][1000 genomes]
rs2061575	0.85[EUR][1000 genomes]
rs2061577	0.85[EUR][1000 genomes]
rs2366716	0.85[EUR][1000 genomes]
rs28373296	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28460851	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28709646	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28776801	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796680	0.88[ASN][1000 genomes]
rs4019514	0.85[EUR][1000 genomes]
rs4615148	0.81[EUR][1000 genomes]
rs4631009	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4694589	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56235322	0.81[EUR][1000 genomes]
rs56382488	0.81[EUR][1000 genomes]
rs61149200	0.92[EUR][1000 genomes]
rs61468561	0.81[EUR][1000 genomes]
rs61661011	0.81[ASN][1000 genomes]
rs67995155	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6824334	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6845845	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6849701	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6851670	0.85[EUR][1000 genomes]
rs72859248	0.85[EUR][1000 genomes]
rs72859249	0.85[EUR][1000 genomes]
rs7661799	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670286	0.81[EUR][1000 genomes]
rs7674847	0.85[EUR][1000 genomes]
rs7675007	0.85[EUR][1000 genomes]
rs7675027	0.84[EUR][1000 genomes]
rs7676278	0.85[EUR][1000 genomes]
rs7679277	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7687433	0.85[EUR][1000 genomes]
rs7690799	0.84[EUR][1000 genomes]
rs7691344	0.80[EUR][1000 genomes]
rs7692425	0.94[ASN][1000 genomes]
rs7692749	0.80[EUR][1000 genomes]
rs7694505	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking 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	17 gene(s)	inside rSNPs	diseases
13	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
2	chr4:73970800-74040800	Weak transcription	Stomach Mucosa	stomach
3	chr4:73971800-74032200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:73985000-74031200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:74004800-74031600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:74005600-74034400	Weak transcription	Esophagus	oesophagus
7	chr4:74005800-74035000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:74006200-74031200	Weak transcription	Brain Angular Gyrus	brain
9	chr4:74006800-74031400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:74006800-74031600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:74006800-74034400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:74006800-74043400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:74008000-74039000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:74008600-74034800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:74008800-74059600	Weak transcription	Fetal Brain Male	brain
16	chr4:74009800-74034400	Weak transcription	Gastric	stomach
17	chr4:74011600-74031400	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:74014600-74046400	Weak transcription	Hela-S3	cervix
19	chr4:74014800-74031200	Weak transcription	Small Intestine	intestine
20	chr4:74015600-74031600	Weak transcription	Fetal Kidney	kidney
21	chr4:74018200-74031200	Weak transcription	Brain Germinal Matrix	brain
22	chr4:74018400-74055200	Weak transcription	Psoas Muscle	Psoas
23	chr4:74018600-74031800	Weak transcription	Brain Anterior Caudate	brain
24	chr4:74018600-74034400	Weak transcription	Colonic Mucosa	Colon
25	chr4:74018600-74034400	Weak transcription	Pancreas	Pancrea
26	chr4:74018600-74034400	Weak transcription	Spleen	Spleen
27	chr4:74018600-74034400	Weak transcription	NHLF	lung
28	chr4:74018800-74034400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:74019200-74043400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr4:74021000-74031600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:74021000-74032000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:74021200-74035000	Strong transcription	K562	blood
33	chr4:74022200-74034200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:74022400-74034400	Weak transcription	Brain Substantia Nigra	brain
35	chr4:74022400-74035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:74022600-74031600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:74024000-74031400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:74024000-74031800	Strong transcription	Dnd41	blood
39	chr4:74024000-74032200	Strong transcription	Fetal Intestine Large	intestine
40	chr4:74024200-74031400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:74024200-74032400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr4:74024200-74043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:74024400-74031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:74024800-74031200	Weak transcription	Left Ventricle	heart
45	chr4:74024800-74034400	Weak transcription	Aorta	Aorta
46	chr4:74025400-74034200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:74025600-74031600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr4:74025600-74040800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:74026000-74031800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:74026600-74031600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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