Variant report

Variant	rs10519470
Chromosome Location	chr5:115819135-115819136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:115819042-115819223	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr5:115818966-115819166	SH-SY5Y	brain:	n/a	chr5:115819118-115819126
3	POLR2A	chr5:115819019-115819264	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:115818469-115819257	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115796425..115798822-chr5:115817832..115819874,2	K562	blood:
2	chr5:115816747..115819335-chr5:115820199..115822889,2	MCF-7	breast:

Variant related genes	Relation type
SEMA6A	TF binding region

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

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

rs_ID	r²[population]
rs12514156	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12515001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12516652	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12518256	0.85[ASN][1000 genomes]
rs12520026	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12522487	1.00[AFR][1000 genomes]
rs17139852	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17139886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17139910	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17139919	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2287687	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3733724	0.82[MEX][hapmap]
rs3931031	1.00[AFR][1000 genomes]
rs56170797	1.00[ASN][1000 genomes]

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115783600-115829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:115791600-115838000	Weak transcription	Right Ventricle	heart
3	chr5:115796000-115833400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:115797000-115834800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr5:115797000-115838400	Strong transcription	Placenta	Placenta
6	chr5:115797400-115833800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:115797600-115834600	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr5:115797800-115834800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:115798000-115833200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:115798000-115834600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:115799000-115830400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:115799400-115832000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr5:115801400-115824000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:115801400-115825000	Weak transcription	Psoas Muscle	Psoas
15	chr5:115803400-115833200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:115804600-115822600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:115810800-115821200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:115813200-115819200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:115813200-115824400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:115813200-115826200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:115813400-115820800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr5:115813400-115822400	Strong transcription	Fetal Intestine Large	intestine
23	chr5:115813600-115821400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:115813600-115826800	Strong transcription	Fetal Muscle Leg	muscle
25	chr5:115813600-115831800	Strong transcription	Fetal Stomach	stomach
26	chr5:115813600-115832000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:115813800-115822600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:115813800-115827200	Weak transcription	Primary T cells from cord blood	blood
29	chr5:115813800-115830600	Weak transcription	HepG2	liver
30	chr5:115813800-115833600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:115813800-115851000	Weak transcription	Liver	Liver
32	chr5:115814000-115821200	Weak transcription	Adipose Nuclei	Adipose
33	chr5:115814000-115826800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:115814000-115830200	Weak transcription	Esophagus	oesophagus
35	chr5:115814000-115850200	Weak transcription	Small Intestine	intestine
36	chr5:115814800-115823800	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:115814800-115827800	Weak transcription	Fetal Heart	heart
38	chr5:115815800-115822400	Strong transcription	Fetal Intestine Small	intestine
39	chr5:115816000-115830400	Weak transcription	Lung	lung
40	chr5:115816000-115838400	Weak transcription	Spleen	Spleen
41	chr5:115816200-115820000	Weak transcription	Gastric	stomach
42	chr5:115816200-115827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:115816400-115820000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:115816400-115822400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:115816400-115830000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:115816400-115830400	Weak transcription	Primary B cells from cord blood	blood
47	chr5:115816800-115821600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:115816800-115821800	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:115816800-115827200	Weak transcription	Brain Angular Gyrus	brain
50	chr5:115816800-115840000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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