Variant report

Variant	rs55759724
Chromosome Location	chr2:85842782-85842783
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:85842753-85843815	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85788038..85789914-chr2:85841678..85843321,2	MCF-7	breast:
2	chr2:85581050..85582551-chr2:85842255..85845112,2	K562	blood:
3	chr2:85764278..85767937-chr2:85842194..85845131,5	K562	blood:
4	chr2:85554801..85556928-chr2:85841826..85844560,3	K562	blood:
5	chr2:85635586..85637613-chr2:85842504..85845075,3	K562	blood:
6	chr2:85635586..85637613-chr2:85842504..85845075,2	K562	blood:
7	chr2:85842186..85844558-chr2:85848833..85852052,4	MCF-7	breast:
8	chr2:85643378..85649324-chr2:85837656..85846268,13	K562	blood:
9	chr2:85765143..85767907-chr2:85841259..85844982,5	MCF-7	breast:
10	chr2:85625848..85628085-chr2:85842277..85844956,2	MCF-7	breast:
11	chr2:85786982..85789648-chr2:85837896..85843296,4	MCF-7	breast:
12	chr2:85579163..85582551-chr2:85842255..85845885,4	K562	blood:
13	chr2:85644680..85648320-chr2:85841692..85845956,4	K562	blood:
14	chr2:85764765..85769369-chr2:85840508..85847982,10	K562	blood:
15	chr2:85555196..85556928-chr2:85841826..85844560,2	K562	blood:
16	chr2:85837207..85840832-chr2:85841070..85844212,15	K562	blood:

No data

Variant related genes	Relation type
C2orf68	TF binding region
USP39	TF binding region
ENSG00000042493	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000152291	Chromatin interaction
ENSG00000168883	Chromatin interaction
ENSG00000115459	Chromatin interaction
ENSG00000042445	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000168887	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1049359	0.91[EUR][1000 genomes]
rs11544042	0.91[EUR][1000 genomes]
rs17736515	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2232739	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41290037	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55671524	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56367745	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6547627	0.91[EUR][1000 genomes]
rs72843878	0.91[EUR][1000 genomes]
rs72843879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7607181	1.00[AMR][1000 genomes];0.91[EUR][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	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85839600-85842800	Weak transcription	Esophagus	oesophagus
2	chr2:85839600-85843000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:85839600-85843200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:85839800-85842800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:85839800-85842800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:85839800-85842800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:85839800-85842800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:85839800-85842800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:85839800-85842800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:85839800-85842800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:85839800-85842800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:85839800-85842800	Weak transcription	Colonic Mucosa	Colon
13	chr2:85839800-85842800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:85839800-85842800	Weak transcription	Fetal Intestine Small	intestine
15	chr2:85839800-85842800	Weak transcription	Fetal Kidney	kidney
16	chr2:85839800-85842800	Weak transcription	Fetal Stomach	stomach
17	chr2:85839800-85842800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:85839800-85842800	Weak transcription	Thymus	Thymus
19	chr2:85839800-85843000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:85839800-85843000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:85839800-85843000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:85839800-85843000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:85839800-85843000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:85839800-85843000	Weak transcription	Right Atrium	heart
25	chr2:85839800-85843000	Weak transcription	Hela-S3	cervix
26	chr2:85839800-85843000	Weak transcription	HMEC	breast
27	chr2:85839800-85843000	Weak transcription	HSMMtube	muscle
28	chr2:85839800-85843000	Weak transcription	HUVEC	blood vessel
29	chr2:85839800-85843000	Weak transcription	NHDF-Ad	bronchial
30	chr2:85839800-85843200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:85839800-85843200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:85840000-85842800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:85840000-85842800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:85840000-85842800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:85840000-85842800	Weak transcription	Brain Germinal Matrix	brain
36	chr2:85840000-85842800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:85840000-85842800	Weak transcription	Fetal Brain Female	brain
38	chr2:85840000-85843000	Weak transcription	Fetal Brain Male	brain
39	chr2:85840000-85843000	Weak transcription	Psoas Muscle	Psoas
40	chr2:85840000-85843200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:85840200-85842800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:85840200-85843000	Weak transcription	NHEK	skin
43	chr2:85841000-85842800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:85841200-85842800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:85841800-85842800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:85841800-85842800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:85841800-85842800	Weak transcription	Primary T cells from cord blood	blood
48	chr2:85841800-85842800	Weak transcription	Left Ventricle	heart
49	chr2:85841800-85842800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:85841800-85842800	Weak transcription	HSMM	muscle

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