Variant report

Variant	rs17024193
Chromosome Location	chr4:148876979-148876980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10005413	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10021991	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10519927	0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs10519934	0.87[YRI][hapmap]
rs1395296	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs17024201	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17024220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17024236	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs17024245	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17476251	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476412	0.80[EUR][1000 genomes]
rs17579683	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575582	1.00[CEU][hapmap]
rs28410093	0.80[EUR][1000 genomes]
rs28607979	0.80[EUR][1000 genomes]
rs4393981	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs55881523	0.83[AFR][1000 genomes]
rs56320153	0.82[AFR][1000 genomes]
rs60201372	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60361452	0.86[AFR][1000 genomes]
rs61080266	0.80[EUR][1000 genomes]
rs73853992	0.84[AFR][1000 genomes]
rs73853995	0.81[AFR][1000 genomes]
rs7657316	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1024596	chr4:148830472-148886915	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148797400-148879600	Weak transcription	Gastric	stomach
2	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
3	chr4:148833600-148877400	Weak transcription	Small Intestine	intestine
4	chr4:148847400-148877200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:148850200-148890800	Weak transcription	HUVEC	blood vessel
6	chr4:148855400-148884800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:148856400-148889000	Weak transcription	Placenta	Placenta
8	chr4:148859400-148898000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:148859800-148878600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:148860800-148879200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:148861800-148878400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:148861800-148883000	Weak transcription	Lung	lung
13	chr4:148861800-148883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:148861800-148884800	Weak transcription	Esophagus	oesophagus
15	chr4:148861800-148885400	Weak transcription	Pancreas	Pancrea
16	chr4:148861800-148890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:148862000-148878400	Weak transcription	Fetal Heart	heart
18	chr4:148862000-148879200	Weak transcription	Psoas Muscle	Psoas
19	chr4:148862800-148887800	Weak transcription	Fetal Intestine Large	intestine
20	chr4:148864200-148877000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:148864200-148887200	Weak transcription	NHLF	lung
22	chr4:148864400-148896800	Weak transcription	Osteobl	bone
23	chr4:148864800-148891200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:148865000-148879400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr4:148865400-148879400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:148866400-148887400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:148866400-148889800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
29	chr4:148866600-148882800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:148867200-148891200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:148867400-148882000	Weak transcription	HSMMtube	muscle
32	chr4:148868200-148878200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:148868200-148902600	Weak transcription	NH-A	brain
34	chr4:148868400-148878000	Weak transcription	HMEC	breast
35	chr4:148869200-148883000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:148869200-148883000	Weak transcription	GM12878-XiMat	blood
37	chr4:148869400-148883200	Weak transcription	Right Ventricle	heart
38	chr4:148869800-148877000	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:148870000-148884800	Weak transcription	Fetal Intestine Small	intestine
40	chr4:148870800-148878200	Weak transcription	Left Ventricle	heart
41	chr4:148871000-148878200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:148871000-148878200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr4:148871600-148877000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:148871800-148878200	Weak transcription	Aorta	Aorta
45	chr4:148872200-148879600	Weak transcription	Fetal Stomach	stomach
46	chr4:148872200-148883000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:148872400-148884400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:148872600-148879200	Weak transcription	NHDF-Ad	bronchial
49	chr4:148873000-148879200	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:148873200-148878600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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