Variant report

Variant	rs4072
Chromosome Location	chr4:74129185-74129186
allele	C/T
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	chr4:74127553-74130521	K562	blood:	n/a	n/a
2	POLR2A	chr4:74128877-74129971	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:74128694-74129412	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr4:74128729-74129286	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:74128993-74129403	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:73929823..73938112-chr4:74120693..74129342,27	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALB-1	chr4:74124504-74130555	NONHSAT096836

Variant related genes	Relation type
ANKRD17	TF binding region
ENSG00000221639	TF binding region
ENSG00000163626	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10034689	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10035001	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10050235	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10805059	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap]
rs11724514	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11736349	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11935070	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13101277	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs1534450	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs34740973	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4694155	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs4694156	0.93[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap]
rs5020219	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs58721459	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60190643	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6850870	0.96[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7688637	0.86[EUR][1000 genomes]
rs9291182	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3350599	chr4:74122400-74142462	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74125600-74130400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr4:74125600-74130800	Weak transcription	Lung	lung
3	chr4:74125800-74149000	Weak transcription	Ovary	ovary
4	chr4:74126000-74130400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:74126000-74131000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:74126000-74131400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:74126000-74153400	Weak transcription	HSMMtube	muscle
8	chr4:74126200-74133600	Weak transcription	Psoas Muscle	Psoas
9	chr4:74126200-74142800	Weak transcription	Adipose Nuclei	Adipose
10	chr4:74126200-74142800	Weak transcription	Aorta	Aorta
11	chr4:74126400-74131200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:74126400-74142800	Weak transcription	Fetal Lung	lung
13	chr4:74126400-74147000	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:74126600-74129600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:74126600-74129800	Weak transcription	Fetal Brain Female	brain
16	chr4:74126600-74129800	Weak transcription	Fetal Thymus	thymus
17	chr4:74126600-74129800	Weak transcription	Thymus	Thymus
18	chr4:74126600-74130800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:74126600-74130800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:74126600-74131000	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:74126600-74131200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:74126600-74131200	Weak transcription	Osteobl	bone
23	chr4:74126600-74132400	Weak transcription	HepG2	liver
24	chr4:74126600-74140200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:74126600-74140200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:74126600-74140400	Weak transcription	NHEK	skin
27	chr4:74126600-74141000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:74126600-74142800	Weak transcription	Primary B cells from cord blood	blood
29	chr4:74126600-74142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:74126600-74147000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:74126600-74147000	Weak transcription	Fetal Stomach	stomach
32	chr4:74126600-74149200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:74126600-74152400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:74126800-74129800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:74126800-74130200	Weak transcription	NHDF-Ad	bronchial
36	chr4:74126800-74130400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:74126800-74131200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:74126800-74132600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:74126800-74140400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:74127000-74130400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:74127000-74138600	Weak transcription	Fetal Intestine Small	intestine
42	chr4:74127000-74139600	Weak transcription	Brain Substantia Nigra	brain
43	chr4:74127000-74158600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:74127200-74129800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:74127200-74131000	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:74127200-74154800	Weak transcription	Left Ventricle	heart
47	chr4:74127400-74129400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:74127400-74129600	Weak transcription	Liver	Liver
49	chr4:74127400-74140600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:74127400-74154000	Weak transcription	Brain Angular Gyrus	brain

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