Variant report

Variant	rs2161227
Chromosome Location	chr5:115810143-115810144
allele	G/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	chr5:115809951-115810155	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115805007..115807808-chr5:115809422..115811388,2	K562	blood:

Variant related genes	Relation type
SEMA6A	TF binding region
ENSG00000092421	Chromatin interaction
ENSG00000248445	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10077506	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap]
rs10077720	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap]
rs10078884	0.84[JPT][hapmap]
rs11956022	0.84[JPT][hapmap]
rs12186896	0.94[JPT][hapmap]
rs12522475	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs154599	0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs154600	0.82[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs154602	0.85[ASN][1000 genomes]
rs17139805	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs17139825	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs17139898	0.88[CEU][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs17139903	0.80[GIH][hapmap];0.84[JPT][hapmap]
rs2059874	0.80[GIH][hapmap];0.84[JPT][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs2278261	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2278263	0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs2278265	0.84[JPT][hapmap]
rs2287685	0.88[CEU][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes]
rs2303752	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs3733725	0.81[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap]
rs6861511	0.88[JPT][hapmap]
rs9885339	0.88[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9885340	0.84[JPT][hapmap]

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115774600-115811000	Weak transcription	Small Intestine	intestine
2	chr5:115783600-115813000	Weak transcription	Spleen	Spleen
3	chr5:115783600-115813200	Weak transcription	Gastric	stomach
4	chr5:115783600-115829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:115788000-115813200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:115789600-115812600	Strong transcription	Fetal Intestine Large	intestine
7	chr5:115790400-115812400	Weak transcription	HepG2	liver
8	chr5:115791000-115812400	Weak transcription	Fetal Brain Male	brain
9	chr5:115791000-115812600	Weak transcription	Ovary	ovary
10	chr5:115791600-115838000	Weak transcription	Right Ventricle	heart
11	chr5:115792800-115812600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:115796000-115833400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:115797000-115834800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr5:115797000-115838400	Strong transcription	Placenta	Placenta
15	chr5:115797400-115833800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:115797600-115834600	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr5:115797800-115834800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:115798000-115833200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:115798000-115834600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:115799000-115830400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:115799400-115812200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr5:115799400-115832000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr5:115800200-115812800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:115800600-115812000	Weak transcription	Fetal Heart	heart
25	chr5:115800800-115813200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:115801000-115812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:115801400-115824000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:115801400-115825000	Weak transcription	Psoas Muscle	Psoas
29	chr5:115803000-115815400	Weak transcription	Thymus	Thymus
30	chr5:115803400-115812400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:115803400-115812600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:115803400-115813200	Weak transcription	Fetal Thymus	thymus
33	chr5:115803400-115816000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:115803400-115833200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:115803600-115810800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:115803600-115811000	Weak transcription	Brain Substantia Nigra	brain
37	chr5:115803600-115813000	Weak transcription	Esophagus	oesophagus
38	chr5:115804000-115812200	Weak transcription	Fetal Intestine Small	intestine
39	chr5:115804000-115812600	Weak transcription	Colonic Mucosa	Colon
40	chr5:115804200-115812000	Weak transcription	Brain Anterior Caudate	brain
41	chr5:115804400-115811000	Weak transcription	Left Ventricle	heart
42	chr5:115804400-115811800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:115804400-115811800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:115804400-115812600	Weak transcription	Brain Angular Gyrus	brain
45	chr5:115804400-115812600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:115804600-115810800	Weak transcription	Fetal Lung	lung
47	chr5:115804600-115812200	Weak transcription	Liver	Liver
48	chr5:115804600-115812400	Weak transcription	Brain Germinal Matrix	brain
49	chr5:115804600-115822600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:115804800-115813000	Weak transcription	Primary T cells from cord blood	blood

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