Variant report

Variant	rs55691981
Chromosome Location	chr3:47155864-47155865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47150626..47153559-chr3:47155579..47157656,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17784031	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1874265	1.00[ASN][1000 genomes]
rs1982510	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41290648	1.00[ASN][1000 genomes]
rs55786350	0.81[AMR][1000 genomes]
rs56121448	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56273245	1.00[ASN][1000 genomes]
rs57249369	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246361	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62246379	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62246402	0.81[EUR][1000 genomes]
rs62246404	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246409	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246470	1.00[ASN][1000 genomes]
rs62248895	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62248910	1.00[ASN][1000 genomes]
rs62248950	1.00[ASN][1000 genomes]
rs73075647	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73079603	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1002970	chr3:47120592-47170607	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47123000-47159200	Weak transcription	Brain Substantia Nigra	brain
2	chr3:47126400-47159800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr3:47126800-47168200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:47135000-47158800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:47139600-47161800	Weak transcription	Fetal Brain Female	brain
6	chr3:47139800-47163200	Weak transcription	A549	lung
7	chr3:47140000-47175600	Weak transcription	Small Intestine	intestine
8	chr3:47140600-47159200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:47144200-47170800	Weak transcription	Brain Angular Gyrus	brain
10	chr3:47145800-47175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:47146400-47164600	Weak transcription	Psoas Muscle	Psoas
12	chr3:47149000-47157600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:47149200-47157600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:47149200-47159000	Strong transcription	Fetal Thymus	thymus
15	chr3:47149600-47160000	Strong transcription	Liver	Liver
16	chr3:47149800-47156800	Strong transcription	K562	blood
17	chr3:47149800-47159600	Strong transcription	Dnd41	blood
18	chr3:47150000-47158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:47150000-47158800	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:47150200-47158600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:47150200-47158600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:47150200-47158800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:47150400-47158600	Strong transcription	Primary hematopoietic stem cells	blood
24	chr3:47150400-47158800	Strong transcription	Adipose Nuclei	Adipose
25	chr3:47150600-47160600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:47150800-47156600	Strong transcription	Fetal Intestine Small	intestine
27	chr3:47150800-47156600	Strong transcription	Fetal Stomach	stomach
28	chr3:47150800-47157400	Strong transcription	Primary T cells from cord blood	blood
29	chr3:47150800-47158600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:47150800-47161000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:47150800-47161400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:47150800-47166600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr3:47151200-47164400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:47151200-47164400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:47151200-47167400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:47151400-47159600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr3:47151400-47161600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:47151600-47157200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:47151600-47158400	Strong transcription	Hela-S3	cervix
40	chr3:47151600-47158600	Strong transcription	HepG2	liver
41	chr3:47151600-47159800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:47151800-47157400	Strong transcription	Fetal Muscle Leg	muscle
43	chr3:47151800-47160600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:47152000-47159400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:47152000-47159800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:47152200-47157400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:47152200-47158600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr3:47152200-47159800	Strong transcription	Fetal Intestine Large	intestine
49	chr3:47152400-47157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:47152400-47158800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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