Variant report

Variant	rs58341123
Chromosome Location	chr5:147768254-147768255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr5:147767833-147768311	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr5:147767536-147769207	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:147767795-147769368	K562	blood:	n/a	n/a
4	SPI1	chr5:147768241-147768569	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:147765249..147769728-chr5:147791100..147796136,4	K562	blood:
2	chr5:147766631..147770580-chr5:147772550..147777901,5	MCF-7	breast:
3	chr5:147763618..147765611-chr5:147767145..147768884,2	K562	blood:
4	chr5:147768228..147772118-chr5:147794636..147797754,3	K562	blood:
5	chr5:147761605..147765923-chr5:147767275..147775967,11	MCF-7	breast:
6	chr5:147768135..147770524-chr5:147775300..147778103,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000247199	TF binding region
ENSG00000247199	Chromatin interaction
ENSG00000145868	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10515614	0.94[EUR][1000 genomes]
rs11957411	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs15463	0.83[EUR][1000 genomes]
rs17108157	0.82[AFR][1000 genomes]
rs17108171	0.85[AFR][1000 genomes]
rs17720107	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1833767	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3812011	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4705254	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705255	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4705258	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs58313354	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs58502205	0.83[EUR][1000 genomes]
rs59691479	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs60746551	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147764400-147773000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:147764400-147777200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:147764400-147789800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:147764400-147795400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:147764400-147796600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:147764400-147806800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:147764600-147768600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:147764600-147770600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:147764600-147772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:147764600-147772400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:147764600-147773800	Weak transcription	HSMM	muscle
12	chr5:147764600-147774400	Weak transcription	HMEC	breast
13	chr5:147764800-147768800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr5:147764800-147771800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:147764800-147772600	Weak transcription	Fetal Brain Female	brain
16	chr5:147764800-147777400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:147765000-147768800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:147765000-147770600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:147765000-147784600	Weak transcription	Fetal Stomach	stomach
20	chr5:147765200-147770400	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:147765200-147771800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:147765200-147771800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:147765200-147774200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:147765200-147774400	Weak transcription	Fetal Lung	lung
25	chr5:147765200-147777600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:147765200-147778400	Weak transcription	Fetal Kidney	kidney
27	chr5:147765200-147778600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:147765200-147796200	Weak transcription	Esophagus	oesophagus
29	chr5:147765600-147768600	Genic enhancers	Primary T cells from cord blood	blood
30	chr5:147765600-147778600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:147765600-147784200	Weak transcription	Colonic Mucosa	Colon
32	chr5:147765800-147768800	Weak transcription	A549	lung
33	chr5:147765800-147769200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:147765800-147769200	Strong transcription	Fetal Muscle Leg	muscle
35	chr5:147765800-147769600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:147765800-147769800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:147765800-147770000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:147765800-147770400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:147765800-147770400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:147765800-147770400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:147765800-147770600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:147765800-147772000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:147765800-147772000	Weak transcription	Fetal Brain Male	brain
44	chr5:147765800-147772200	Weak transcription	Brain Substantia Nigra	brain
45	chr5:147765800-147772400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:147765800-147773800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:147765800-147774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:147765800-147778600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:147765800-147789600	Weak transcription	Lung	lung
50	chr5:147766000-147768400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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