Variant report

Variant	rs66724427
Chromosome Location	chr19:41776257-41776258
allele	A/G
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	chr19:41776162-41776284	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41775827..41777491-chr19:41793083..41796048,2	K562	blood:

Variant related genes	Relation type
HNRNPUL1	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10410836	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421990	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1056854	0.95[EUR][1000 genomes]
rs11466359	0.86[EUR][1000 genomes]
rs11879429	0.81[EUR][1000 genomes]
rs11879435	0.81[EUR][1000 genomes]
rs11879562	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11880564	0.86[EUR][1000 genomes]
rs11880729	0.80[EUR][1000 genomes]
rs11881940	0.98[EUR][1000 genomes]
rs11881953	0.94[EUR][1000 genomes]
rs11882467	0.81[ASN][1000 genomes]
rs12327659	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12972266	0.92[EUR][1000 genomes]
rs12972949	0.85[EUR][1000 genomes]
rs12974323	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12974420	0.98[EUR][1000 genomes]
rs12975585	0.96[ASN][1000 genomes]
rs12975920	0.98[ASN][1000 genomes]
rs12976536	0.98[EUR][1000 genomes]
rs12977563	0.81[EUR][1000 genomes]
rs12978323	0.83[ASN][1000 genomes]
rs12980298	0.96[ASN][1000 genomes]
rs12980480	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12980839	0.91[ASN][1000 genomes]
rs12983047	0.96[ASN][1000 genomes]
rs12984160	0.92[EUR][1000 genomes]
rs12985162	0.83[EUR][1000 genomes]
rs12985339	0.98[EUR][1000 genomes]
rs13345456	0.97[ASN][1000 genomes]
rs16958994	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16958996	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16958999	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865051	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865052	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865053	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1946613	0.84[EUR][1000 genomes]
rs2053086	0.98[EUR][1000 genomes]
rs2241718	0.85[EUR][1000 genomes]
rs2241719	0.86[EUR][1000 genomes]
rs2241720	0.86[EUR][1000 genomes]
rs2304230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304231	0.84[EUR][1000 genomes]
rs2304232	0.84[EUR][1000 genomes]
rs2304234	0.81[ASN][1000 genomes]
rs34075897	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34322801	0.88[EUR][1000 genomes]
rs34945449	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35501756	0.89[EUR][1000 genomes]
rs35812313	0.98[EUR][1000 genomes]
rs3745295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752705	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3760660	0.84[EUR][1000 genomes]
rs3786555	0.83[ASN][1000 genomes]
rs3816052	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826714	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4456618	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4591267	0.84[EUR][1000 genomes]
rs4802115	0.81[ASN][1000 genomes]
rs67511749	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67744888	0.98[EUR][1000 genomes]
rs6957	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7245398	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7248164	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7254679	0.91[ASN][1000 genomes]
rs7256416	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256856	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257310	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7257742	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7257825	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7258749	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8103839	0.98[EUR][1000 genomes]
rs8105161	0.91[ASN][1000 genomes]
rs8105901	0.96[EUR][1000 genomes]
rs8109167	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109627	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	esv17637	chr19:41770228-41815282	Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41772800-41794400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
2	chr19:41773000-41776800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:41773000-41777400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:41773000-41802400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:41773000-41804000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr19:41773200-41794400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:41773200-41794600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:41773200-41802200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:41773200-41814400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:41773400-41783000	Strong transcription	Fetal Kidney	kidney
11	chr19:41773400-41788000	Strong transcription	Brain Cingulate Gyrus	brain
12	chr19:41773400-41788400	Strong transcription	Primary hematopoietic stem cells	blood
13	chr19:41773400-41788600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:41773400-41792600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:41773400-41793200	Strong transcription	Brain Anterior Caudate	brain
16	chr19:41773400-41794400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr19:41773400-41794600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:41773400-41802200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:41773400-41802200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr19:41773600-41777000	Weak transcription	Psoas Muscle	Psoas
21	chr19:41773600-41788000	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr19:41773600-41788400	Strong transcription	Esophagus	oesophagus
23	chr19:41773600-41792600	Strong transcription	Rectal Smooth Muscle	rectum
24	chr19:41773600-41792800	Strong transcription	Colonic Mucosa	Colon
25	chr19:41773600-41793400	Strong transcription	K562	blood
26	chr19:41773600-41793400	Strong transcription	NH-A	brain
27	chr19:41773600-41793600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr19:41773600-41801400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:41773600-41801800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:41773600-41802200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:41773600-41802200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:41773600-41802200	Strong transcription	Placenta	Placenta
33	chr19:41773600-41802200	Strong transcription	HSMM	muscle
34	chr19:41773600-41802800	Weak transcription	Right Atrium	heart
35	chr19:41773600-41803400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr19:41773600-41804400	Strong transcription	Thymus	Thymus
37	chr19:41773600-41812600	Strong transcription	A549	lung
38	chr19:41773800-41776800	Weak transcription	Fetal Heart	heart
39	chr19:41773800-41777400	Strong transcription	HUVEC	blood vessel
40	chr19:41773800-41781200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr19:41773800-41787800	Strong transcription	Fetal Lung	lung
42	chr19:41773800-41788000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr19:41773800-41788000	Strong transcription	Brain Angular Gyrus	brain
44	chr19:41773800-41788000	Strong transcription	Brain Hippocampus Middle	brain
45	chr19:41773800-41788600	Strong transcription	NHDF-Ad	bronchial
46	chr19:41773800-41790800	Strong transcription	HepG2	liver
47	chr19:41773800-41793800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:41773800-41794600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:41773800-41798400	Strong transcription	Adipose Nuclei	Adipose
50	chr19:41773800-41800200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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