Variant report

Variant	rs61838689
Chromosome Location	chr1:247485117-247485118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247484098..247486215-chr1:247495440..247497543,2	K562	blood:
2	chr1:247484997..247486937-chr1:247500462..247503140,2	K562	blood:
3	chr1:247465500..247467787-chr1:247483881..247486302,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10754543	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10802483	0.84[EUR][1000 genomes]
rs11579326	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11579352	1.00[ASN][1000 genomes]
rs11581163	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12082983	0.83[EUR][1000 genomes]
rs12564303	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566166	0.84[EUR][1000 genomes]
rs17721193	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2211273	0.84[EUR][1000 genomes]
rs2890342	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41268345	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925606	0.82[EUR][1000 genomes]
rs4925620	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55686936	0.83[EUR][1000 genomes]
rs55913685	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56124448	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56245379	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56250713	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56358050	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57647632	0.83[AMR][1000 genomes]
rs57653401	0.88[ASN][1000 genomes]
rs58747962	0.82[ASN][1000 genomes]
rs61838684	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61841570	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6426236	0.84[EUR][1000 genomes]
rs6426238	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6656258	0.82[EUR][1000 genomes]
rs6667658	0.82[EUR][1000 genomes]
rs6698384	0.84[EUR][1000 genomes]
rs6698803	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7544023	0.83[EUR][1000 genomes]
rs7552041	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
2	chr1:247459800-247485800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
4	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr1:247461000-247485400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:247461200-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:247461200-247488200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:247461400-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:247462800-247488000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:247463000-247486200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:247463000-247486400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:247463000-247493600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:247463200-247493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:247463400-247486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:247463400-247486600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:247464600-247486000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:247464800-247493400	Strong transcription	Fetal Stomach	stomach
20	chr1:247465200-247493400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:247466800-247485600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:247467600-247493800	Weak transcription	Stomach Mucosa	stomach
23	chr1:247468400-247494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:247469000-247493600	Weak transcription	Psoas Muscle	Psoas
25	chr1:247469400-247493800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:247471200-247485600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:247471800-247493400	Weak transcription	Fetal Heart	heart
28	chr1:247472800-247493400	Weak transcription	Small Intestine	intestine
29	chr1:247473000-247485400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:247473000-247485600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:247473400-247485200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:247474000-247488200	Weak transcription	Gastric	stomach
33	chr1:247476600-247486600	Strong transcription	HepG2	liver
34	chr1:247476600-247491400	Strong transcription	Dnd41	blood
35	chr1:247476600-247494000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:247477000-247485200	Weak transcription	Pancreas	Pancrea
37	chr1:247478400-247486000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:247478400-247486800	Strong transcription	K562	blood
39	chr1:247479600-247485600	Weak transcription	NHLF	lung
40	chr1:247479600-247487800	Strong transcription	Fetal Lung	lung
41	chr1:247479800-247493000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:247480000-247493600	Weak transcription	NHDF-Ad	bronchial
43	chr1:247481000-247485200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:247481000-247485200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:247481400-247485200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:247481800-247487000	Strong transcription	Placenta	Placenta
47	chr1:247482000-247492600	Strong transcription	Liver	Liver
48	chr1:247482200-247486600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr1:247482200-247488600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:247482400-247493600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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