Variant report

Variant	rs7661799
Chromosome Location	chr4:74028721-74028722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:74028637-74028727	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74028581..74032881-chr4:74033688..74038120,5	K562	blood:

Variant related genes	Relation type
ANKRD17	TF binding region

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	0.87[EUR][1000 genomes]
rs16849151	0.87[EUR][1000 genomes]
rs16849172	0.94[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	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4694589	0.80[AMR][1000 genomes];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	0.96[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	0.90[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]
rs72861861	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	0.83[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	chr4:73969200-74030200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:73970800-74040800	Weak transcription	Stomach Mucosa	stomach
4	chr4:73971800-74032200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:73978800-74029400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:73985000-74031200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:73994800-74029400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:74004800-74031600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:74005600-74034400	Weak transcription	Esophagus	oesophagus
10	chr4:74005800-74035000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:74006200-74029200	Strong transcription	HSMM	muscle
12	chr4:74006200-74031200	Weak transcription	Brain Angular Gyrus	brain
13	chr4:74006800-74031400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:74006800-74031600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:74006800-74034400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:74006800-74043400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:74008000-74039000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:74008600-74034800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:74008800-74059600	Weak transcription	Fetal Brain Male	brain
20	chr4:74009800-74034400	Weak transcription	Gastric	stomach
21	chr4:74011600-74031400	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:74014600-74046400	Weak transcription	Hela-S3	cervix
23	chr4:74014800-74031200	Weak transcription	Small Intestine	intestine
24	chr4:74015600-74031600	Weak transcription	Fetal Kidney	kidney
25	chr4:74018200-74031200	Weak transcription	Brain Germinal Matrix	brain
26	chr4:74018400-74055200	Weak transcription	Psoas Muscle	Psoas
27	chr4:74018600-74031000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:74018600-74031800	Weak transcription	Brain Anterior Caudate	brain
29	chr4:74018600-74034400	Weak transcription	Colonic Mucosa	Colon
30	chr4:74018600-74034400	Weak transcription	Pancreas	Pancrea
31	chr4:74018600-74034400	Weak transcription	Spleen	Spleen
32	chr4:74018600-74034400	Weak transcription	NHLF	lung
33	chr4:74018800-74034400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:74019200-74043400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:74020800-74028800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:74021000-74031600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:74021000-74032000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:74021200-74029800	Strong transcription	HepG2	liver
39	chr4:74021200-74035000	Strong transcription	K562	blood
40	chr4:74021400-74029000	Strong transcription	GM12878-XiMat	blood
41	chr4:74022200-74034200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:74022400-74030800	Weak transcription	Ovary	ovary
43	chr4:74022400-74034400	Weak transcription	Brain Substantia Nigra	brain
44	chr4:74022400-74035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:74022600-74031600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:74023200-74029000	Strong transcription	Fetal Intestine Small	intestine
47	chr4:74023800-74029400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:74023800-74029400	Strong transcription	Primary T cells from cord blood	blood
49	chr4:74024000-74028800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:74024000-74029000	Strong transcription	Liver	Liver

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