Variant report

Variant	rs8002352
Chromosome Location	chr13:48823247-48823248
allele	C/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:6)
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	STAT3	chr13:48823225-48823476	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:48811595..48813278-chr13:48821384..48823483,3	K562	blood:
2	chr13:48808662..48812732-chr13:48820679..48824988,4	K562	blood:
3	chr13:48818594..48820603-chr13:48823008..48825068,2	K562	blood:
4	chr13:48823136..48824828-chr13:48830580..48833314,2	K562	blood:
5	chr13:48814554..48816735-chr13:48821665..48824579,2	MCF-7	breast:
6	chr13:48821859..48823433-chr13:48823611..48826198,2	K562	blood:

No data

Variant related genes	Relation type
ITM2B	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1002865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556899	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3092888	1.00[CEU][hapmap]
rs34692420	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151434	1.00[CEU][hapmap]
rs4151442	1.00[CEU][hapmap]
rs4151448	1.00[CEU][hapmap]
rs4151452	1.00[CEU][hapmap]
rs4151456	1.00[CEU][hapmap]
rs4151474	1.00[CEU][hapmap]
rs4151479	0.81[AFR][1000 genomes]
rs4151522	0.84[AFR][1000 genomes]
rs4151524	0.84[AFR][1000 genomes]
rs4151525	1.00[CEU][hapmap]
rs56835880	1.00[EUR][1000 genomes]
rs56955865	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60372626	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61683759	1.00[EUR][1000 genomes]
rs73485077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485079	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487048	1.00[EUR][1000 genomes]
rs73487051	1.00[EUR][1000 genomes]
rs73487055	1.00[EUR][1000 genomes]
rs73487056	1.00[EUR][1000 genomes]
rs73487058	1.00[EUR][1000 genomes]
rs74075993	0.84[AFR][1000 genomes]
rs7983535	1.00[EUR][1000 genomes]
rs7986777	1.00[EUR][1000 genomes]
rs7993670	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999809	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8002765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9332246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9332278	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs9332285	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9332304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595874	0.94[ASN][1000 genomes]
rs9595875	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48808400-48829000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:48808400-48829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:48809800-48829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:48810400-48830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:48810800-48841000	Weak transcription	Hela-S3	cervix
8	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:48811400-48828200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:48811600-48825800	Weak transcription	Gastric	stomach
11	chr13:48811600-48827600	Weak transcription	Thymus	Thymus
12	chr13:48811600-48829000	Weak transcription	Colonic Mucosa	Colon
13	chr13:48811600-48829600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr13:48811600-48835600	Weak transcription	Fetal Brain Male	brain
15	chr13:48811600-48836800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:48811800-48825200	Weak transcription	Fetal Brain Female	brain
17	chr13:48811800-48826400	Weak transcription	Psoas Muscle	Psoas
18	chr13:48811800-48827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:48811800-48828000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:48811800-48828200	Weak transcription	Aorta	Aorta
21	chr13:48812000-48825000	Weak transcription	Brain Substantia Nigra	brain
22	chr13:48812200-48825000	Weak transcription	Brain Angular Gyrus	brain
23	chr13:48812200-48825200	Weak transcription	Fetal Kidney	kidney
24	chr13:48812200-48825200	Weak transcription	HSMMtube	muscle
25	chr13:48812200-48826200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:48812200-48828200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr13:48812400-48826200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:48812400-48827600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:48812400-48827600	Weak transcription	HUVEC	blood vessel
30	chr13:48812400-48827800	Weak transcription	HMEC	breast
31	chr13:48812400-48827800	Weak transcription	NH-A	brain
32	chr13:48812400-48828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:48812400-48828200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:48812600-48827800	Weak transcription	Osteobl	bone
35	chr13:48813400-48829600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr13:48813600-48826400	Weak transcription	Right Atrium	heart
37	chr13:48813600-48828200	Weak transcription	HSMM	muscle
38	chr13:48813800-48825800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:48814000-48826000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:48814000-48828200	Weak transcription	NHEK	skin
41	chr13:48814200-48827600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:48814200-48827800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr13:48814200-48827800	Weak transcription	A549	lung
44	chr13:48814200-48828000	Weak transcription	Fetal Intestine Large	intestine
45	chr13:48814200-48828200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:48814600-48824200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:48814600-48826400	Weak transcription	Fetal Stomach	stomach
48	chr13:48814600-48827800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:48815200-48827800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr13:48815400-48825000	Weak transcription	Fetal Muscle Leg	muscle

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