Variant report

Variant	rs3984967
Chromosome Location	chr5:115788464-115788465
allele	A/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	chr5:115788273-115789180	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SEMA6A	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10447236	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12186896	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2288476	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs26590	0.81[AMR][1000 genomes]
rs33065	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs33068	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72810791	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72810792	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72810793	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7707574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7733156	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs888825	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9327003	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115774600-115811000	Weak transcription	Small Intestine	intestine
2	chr5:115778000-115790000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:115778400-115788800	Weak transcription	HSMMtube	muscle
4	chr5:115779000-115788600	Weak transcription	Fetal Heart	heart
5	chr5:115779000-115789800	Strong transcription	Placenta	Placenta
6	chr5:115780600-115789400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:115781400-115789600	Weak transcription	Primary B cells from cord blood	blood
8	chr5:115782000-115789600	Weak transcription	Fetal Brain Male	brain
9	chr5:115782200-115798200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:115782600-115788600	Weak transcription	Psoas Muscle	Psoas
11	chr5:115782600-115789800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:115782800-115789200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:115783000-115789800	Weak transcription	Fetal Thymus	thymus
14	chr5:115783400-115788600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:115783400-115789800	Weak transcription	Thymus	Thymus
16	chr5:115783400-115790200	Weak transcription	Brain Germinal Matrix	brain
17	chr5:115783400-115790200	Weak transcription	Right Ventricle	heart
18	chr5:115783600-115788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:115783600-115788600	Weak transcription	Fetal Kidney	kidney
20	chr5:115783600-115788600	Weak transcription	Lung	lung
21	chr5:115783600-115788800	Weak transcription	Brain Anterior Caudate	brain
22	chr5:115783600-115789200	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:115783600-115789600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:115783600-115789600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:115783600-115789800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:115783600-115789800	Weak transcription	Fetal Lung	lung
27	chr5:115783600-115790000	Weak transcription	Aorta	Aorta
28	chr5:115783600-115790000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:115783600-115790200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:115783600-115790400	Enhancers	HepG2	liver
31	chr5:115783600-115802200	Weak transcription	Colonic Mucosa	Colon
32	chr5:115783600-115802200	Weak transcription	Pancreas	Pancrea
33	chr5:115783600-115803400	Weak transcription	Esophagus	oesophagus
34	chr5:115783600-115813000	Weak transcription	Spleen	Spleen
35	chr5:115783600-115813200	Weak transcription	Gastric	stomach
36	chr5:115783600-115829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:115783800-115789600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:115783800-115789800	Weak transcription	Adipose Nuclei	Adipose
39	chr5:115783800-115789800	Weak transcription	Ovary	ovary
40	chr5:115783800-115790000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:115783800-115803200	Weak transcription	Liver	Liver
42	chr5:115784000-115791200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:115784200-115796800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:115784200-115800000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:115784400-115789000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:115784400-115791000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:115784600-115789400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:115785000-115790000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:115785200-115789000	Weak transcription	Fetal Brain Female	brain
50	chr5:115785200-115789800	Weak transcription	Primary T cells from cord blood	blood

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