Variant report

Variant	rs58879065
Chromosome Location	chr2:54195284-54195285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:54195017-54195997	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:54194979-54195945	GM12878	blood:	n/a	n/a
3	CREB1	chr2:54195268-54195745	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54165576..54167252-chr2:54193257..54196468,3	K562	blood:
2	chr2:54195012..54197478-chr2:54219368..54222229,2	K562	blood:
3	chr2:54185625..54188123-chr2:54194333..54197670,3	MCF-7	breast:
4	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:
5	chr2:54157567..54166967-chr2:54194910..54201681,12	MCF-7	breast:
6	chr2:54176939..54180611-chr2:54194148..54196574,3	K562	blood:
7	chr2:54194885..54197429-chr2:55459526..55461126,2	MCF-7	breast:
8	chr2:54194904..54197235-chr2:54307312..54309509,2	K562	blood:

No data

Variant related genes	Relation type
ACYP2	TF binding region
ENSG00000162994	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000241114	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12623273	0.82[AMR][1000 genomes]
rs17045435	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2016490	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2293359	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293360	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3213775	0.82[AMR][1000 genomes]
rs3731972	0.90[AMR][1000 genomes]
rs3850347	0.90[AMR][1000 genomes]
rs55940356	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56264825	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58985250	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72799259	0.82[AMR][1000 genomes]
rs72799262	0.82[AMR][1000 genomes]
rs72799268	0.90[AMR][1000 genomes]

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
3	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
4	chr2:54176200-54195400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:54176200-54195400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:54176200-54196000	Weak transcription	Fetal Thymus	thymus
7	chr2:54176200-54196200	Weak transcription	Placenta	Placenta
8	chr2:54177800-54195400	Weak transcription	Right Ventricle	heart
9	chr2:54180000-54195400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:54188400-54195400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:54188800-54195800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:54189000-54195400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:54189400-54195400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:54189600-54195600	Weak transcription	Fetal Kidney	kidney
15	chr2:54189800-54196400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:54190000-54196400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:54190400-54195600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:54190400-54195600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:54190400-54197000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:54190600-54195400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:54190600-54195400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:54190600-54195800	Weak transcription	Colonic Mucosa	Colon
23	chr2:54190600-54196400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:54190600-54197000	Weak transcription	Esophagus	oesophagus
25	chr2:54190800-54195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:54191800-54195800	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:54192000-54195400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:54192200-54195400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:54192400-54195400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:54192400-54195400	Enhancers	Lung	lung
31	chr2:54192400-54195400	Weak transcription	A549	lung
32	chr2:54192400-54195600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:54192400-54195600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:54192400-54196000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:54192600-54195400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:54192600-54195400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:54192600-54195600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:54192600-54195600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:54192600-54195600	Weak transcription	Stomach Mucosa	stomach
40	chr2:54192600-54196400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:54192600-54197000	Weak transcription	Spleen	Spleen
42	chr2:54192800-54195400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:54192800-54195400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:54192800-54195800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:54193000-54196000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:54193200-54195400	Weak transcription	Fetal Heart	heart
47	chr2:54193200-54195400	Weak transcription	Right Atrium	heart
48	chr2:54193400-54195600	Weak transcription	Fetal Intestine Small	intestine
49	chr2:54193600-54195400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:54193600-54195800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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