Variant report

Variant	rs1547382
Chromosome Location	chr4:99493955-99493956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10026446	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10489125	0.82[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs11944636	0.85[CEU][hapmap]
rs1406311	0.85[CEU][hapmap]
rs17027639	1.00[MEX][hapmap]
rs17027776	0.85[CEU][hapmap]
rs17027779	0.85[CEU][hapmap]
rs17027799	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.88[ASN][1000 genomes]
rs17027802	0.81[CHB][hapmap]
rs4699654	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57541793	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62323626	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323627	0.93[ASN][1000 genomes]
rs62323629	0.91[ASN][1000 genomes]
rs62323632	0.91[ASN][1000 genomes]
rs62323633	0.91[ASN][1000 genomes]
rs6833529	0.91[ASN][1000 genomes]
rs73832354	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7666573	0.85[CEU][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7666585	0.82[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7667273	0.82[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
3	chr4:99483200-99495800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:99483400-99498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:99484200-99495400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:99485000-99501400	Weak transcription	HUVEC	blood vessel
7	chr4:99485400-99495000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:99487200-99500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:99487400-99495000	Weak transcription	Primary T cells from cord blood	blood
10	chr4:99487800-99498600	Weak transcription	NHLF	lung
11	chr4:99488000-99495200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:99488000-99495200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:99488000-99495400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:99488000-99499000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:99488000-99499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:99488200-99494200	Enhancers	Brain Angular Gyrus	brain
17	chr4:99488200-99495200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:99488200-99495400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:99488200-99495400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:99488200-99495800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:99488200-99500200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:99488400-99495400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:99489000-99498800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:99490200-99495000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:99490200-99499000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:99490400-99499200	Weak transcription	Brain Germinal Matrix	brain
27	chr4:99490600-99495400	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:99490600-99498600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:99490600-99498800	Weak transcription	Stomach Mucosa	stomach
30	chr4:99490600-99501400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:99490800-99495400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:99490800-99499600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:99490800-99499800	Weak transcription	Right Atrium	heart
34	chr4:99490800-99506600	Weak transcription	Esophagus	oesophagus
35	chr4:99490800-99509000	Weak transcription	HSMM	muscle
36	chr4:99491000-99495000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:99491000-99495000	Weak transcription	NH-A	brain
38	chr4:99491000-99495200	Weak transcription	Fetal Heart	heart
39	chr4:99491000-99503400	Weak transcription	Thymus	Thymus
40	chr4:99491600-99495600	Weak transcription	Ovary	ovary
41	chr4:99492000-99495800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:99492000-99496200	Weak transcription	NHDF-Ad	bronchial
43	chr4:99492000-99498600	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:99492000-99499200	Weak transcription	Osteobl	bone
45	chr4:99492400-99498800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr4:99492600-99495600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:99492600-99497200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:99492600-99498600	Weak transcription	Brain Anterior Caudate	brain
49	chr4:99492600-99499800	Weak transcription	Spleen	Spleen
50	chr4:99492600-99500200	Weak transcription	Fetal Brain Female	brain

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