Variant report

Variant	rs6850870
Chromosome Location	chr4:73973707-73973708
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:73973605-73973927	K562	blood:	n/a	n/a
2	POLR2A	chr4:73973391-73974186	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:73973295-73974281	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr4:73973145-73973873	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:73973380-73974912	A549	lung:	n/a	n/a
6	POLR2A	chr4:73973141-73974613	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr4:73973699-73973922	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr4:73966349-73978302	K562	blood:	n/a	n/a
9	POLR2A	chr4:73973592-73974003	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:73972671-73974863	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:73973612-73975381	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:73971750..73974279-chr4:73976026..73977531,2	K562	blood:
2	chr4:73973098..73975125-chr4:73980215..73981736,2	MCF-7	breast:
3	chr4:73955114..73957841-chr4:73972791..73974834,2	K562	blood:

No data

Variant related genes	Relation type
ANKRD17	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10006547	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10034689	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10035001	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10050235	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10805059	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11724514	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs11736349	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs11935070	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs13101277	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13149759	0.80[JPT][hapmap]
rs1534450	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4072	0.96[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4437217	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4694155	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4694156	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4995246	0.88[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5020219	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6830954	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9291182	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1012068	chr4:73817769-74003079	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic 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
10	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
11	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
12	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
13	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
14	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	chr4:73936200-73980000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:73938800-74005200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:73939000-74005000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
5	chr4:73949200-73988200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:73950600-74004200	Strong transcription	HSMM	muscle
7	chr4:73952800-73992400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:73952800-74023000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:73954600-73992200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:73954600-73995400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:73955200-73991400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:73955200-73991600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:73955800-74019000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:73955800-74022400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:73956000-73995600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:73957600-73985200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:73957800-73978800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:73957800-73984200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:73958200-73974400	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:73958400-73979200	Weak transcription	Hela-S3	cervix
21	chr4:73958600-73978800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:73959000-73976400	Strong transcription	Adipose Nuclei	Adipose
23	chr4:73959600-73977200	Strong transcription	NH-A	brain
24	chr4:73962800-73978800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:73962800-73980000	Strong transcription	Primary T cells from cord blood	blood
26	chr4:73964200-73974000	Weak transcription	Fetal Brain Male	brain
27	chr4:73964600-73985200	Weak transcription	Fetal Heart	heart
28	chr4:73965800-73974000	Weak transcription	Brain Substantia Nigra	brain
29	chr4:73966000-73974200	Weak transcription	Ovary	ovary
30	chr4:73966000-73974400	Weak transcription	Aorta	Aorta
31	chr4:73966000-74005200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:73966000-74016800	Weak transcription	Psoas Muscle	Psoas
33	chr4:73966200-73974200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:73966200-73989200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:73966400-73974000	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:73966600-73989800	Weak transcription	Colonic Mucosa	Colon
37	chr4:73967000-73973800	Weak transcription	NHLF	lung
38	chr4:73967000-73974200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:73967000-73980600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:73967200-73984200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:73967400-73974600	Weak transcription	Gastric	stomach
42	chr4:73967800-73974400	Weak transcription	Right Ventricle	heart
43	chr4:73968000-73974000	Weak transcription	Lung	lung
44	chr4:73968000-73978800	Weak transcription	NHEK	skin
45	chr4:73968000-73981000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:73968000-73983600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr4:73968000-73983800	Weak transcription	Pancreas	Pancrea
48	chr4:73968000-73984400	Weak transcription	Spleen	Spleen
49	chr4:73968000-74005200	Weak transcription	Esophagus	oesophagus
50	chr4:73969200-73978200	Strong transcription	Fetal Muscle Leg	muscle

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