Variant report

Variant	rs57504134
Chromosome Location	chr3:142261040-142261041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142246869..142249118-chr3:142259250..142261613,2	K562	blood:
2	chr3:142260594..142262421-chr3:142262695..142264592,2	K562	blood:
3	chr3:142255246..142257071-chr3:142259760..142261943,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57445815	1.00[AMR][1000 genomes]
rs58495569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59676009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6778905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7635479	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv933680	chr3:142211643-142287189	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv591919	chr3:142219542-142308070	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142200600-142271800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:142201600-142273200	Weak transcription	Esophagus	oesophagus
3	chr3:142201800-142273800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:142204200-142273200	Weak transcription	Spleen	Spleen
5	chr3:142204200-142281400	Weak transcription	Colonic Mucosa	Colon
6	chr3:142209400-142271800	Weak transcription	HepG2	liver
7	chr3:142226000-142287200	Weak transcription	Right Ventricle	heart
8	chr3:142231600-142295800	Weak transcription	Small Intestine	intestine
9	chr3:142233600-142271000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:142238600-142269000	Weak transcription	Fetal Intestine Small	intestine
11	chr3:142239800-142269600	Weak transcription	Thymus	Thymus
12	chr3:142240800-142281600	Weak transcription	Fetal Brain Male	brain
13	chr3:142241000-142280800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:142241800-142270800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:142242400-142275800	Weak transcription	NHEK	skin
16	chr3:142244400-142295600	Weak transcription	Fetal Heart	heart
17	chr3:142248400-142269000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:142248400-142287400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:142248600-142273600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:142250400-142261600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:142251000-142262200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:142251600-142264800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:142251800-142270800	Weak transcription	Fetal Kidney	kidney
24	chr3:142251800-142271600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:142253200-142262200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:142253200-142264000	Weak transcription	Fetal Brain Female	brain
27	chr3:142253200-142264400	Weak transcription	Brain Germinal Matrix	brain
28	chr3:142253200-142264400	Weak transcription	Fetal Lung	lung
29	chr3:142253200-142269600	Weak transcription	Pancreas	Pancrea
30	chr3:142253200-142271200	Weak transcription	Psoas Muscle	Psoas
31	chr3:142253200-142271800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:142253400-142268000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:142253400-142268400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:142253400-142270200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:142253400-142270600	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:142253400-142270800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:142253400-142284800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:142253400-142284800	Weak transcription	Brain Substantia Nigra	brain
39	chr3:142253600-142267600	Weak transcription	Brain Anterior Caudate	brain
40	chr3:142253600-142268400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:142253600-142271600	Weak transcription	Brain Angular Gyrus	brain
42	chr3:142253800-142263400	Weak transcription	HMEC	breast
43	chr3:142253800-142296400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr3:142254000-142270000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr3:142254200-142265400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:142254200-142268400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:142255000-142268400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:142255400-142265400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:142255400-142268000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:142255400-142268800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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