Variant report

Variant	rs61801235
Chromosome Location	chr1:161722649-161722650
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161717547..161721793-chr1:161722241..161732156,16	K562	blood:
2	chr1:161719443..161721129-chr1:161721357..161723660,2	MCF-7	breast:
3	chr1:161718595..161726705-chr1:161728119..161739561,22	MCF-7	breast:
4	chr1:161703503..161707776-chr1:161717836..161724077,7	K562	blood:
5	chr1:161718568..161724937-chr1:161732191..161738837,13	K562	blood:
6	chr1:161718558..161723568-chr1:161731521..161737462,16	K562	blood:

Variant related genes	Relation type
ENSG00000226889	Chromatin interaction
ENSG00000241347	Chromatin interaction
ENSG00000118217	Chromatin interaction
ENSG00000081721	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12021510	0.92[EUR][1000 genomes]
rs12046383	0.85[EUR][1000 genomes]
rs16859935	0.86[EUR][1000 genomes]
rs17406901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17414989	0.87[EUR][1000 genomes]
rs17415303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17415408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17415505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55871495	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56077197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56124956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60397531	0.81[EUR][1000 genomes]
rs61801189	0.85[EUR][1000 genomes]
rs61801191	0.85[EUR][1000 genomes]
rs61801234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801236	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61801237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706008	0.85[EUR][1000 genomes]
rs72706014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706022	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72706023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706028	1.00[AMR][1000 genomes];1.00[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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr1:161720400-161734600	Weak transcription	Aorta	Aorta
2	chr1:161720600-161724200	Weak transcription	Esophagus	oesophagus
3	chr1:161720600-161728800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:161720600-161734600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:161720600-161734800	Weak transcription	Psoas Muscle	Psoas
6	chr1:161720600-161736000	Weak transcription	Spleen	Spleen
7	chr1:161720800-161734600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:161720800-161735000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:161720800-161735000	Weak transcription	Stomach Mucosa	stomach
10	chr1:161721000-161723600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:161721000-161726800	Strong transcription	Fetal Lung	lung
12	chr1:161721000-161728200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:161721000-161728800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:161721000-161728800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:161721000-161728800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:161721000-161728800	Strong transcription	Placenta	Placenta
17	chr1:161721000-161734600	Weak transcription	Right Ventricle	heart
18	chr1:161721000-161734600	Weak transcription	HSMMtube	muscle
19	chr1:161721000-161735000	Weak transcription	Fetal Heart	heart
20	chr1:161721200-161722800	Weak transcription	Colonic Mucosa	Colon
21	chr1:161721200-161722800	Weak transcription	Ovary	ovary
22	chr1:161721200-161722800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:161721200-161723000	Genic enhancers	Dnd41	blood
24	chr1:161721200-161723400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:161721200-161723400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:161721200-161723400	Weak transcription	Brain Substantia Nigra	brain
27	chr1:161721200-161724000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:161721200-161724000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:161721200-161724200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:161721200-161724200	Weak transcription	Thymus	Thymus
31	chr1:161721200-161725000	Strong transcription	HMEC	breast
32	chr1:161721200-161726600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:161721200-161727400	Strong transcription	Brain Cingulate Gyrus	brain
34	chr1:161721200-161728600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:161721200-161728600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:161721200-161728600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:161721200-161728600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:161721200-161728800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:161721200-161728800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:161721200-161728800	Strong transcription	Fetal Intestine Large	intestine
41	chr1:161721200-161729000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:161721200-161729000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:161721200-161729600	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:161721200-161730000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:161721200-161730000	Strong transcription	Liver	Liver
46	chr1:161721200-161731000	Weak transcription	Right Atrium	heart
47	chr1:161721200-161732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:161721200-161733800	Weak transcription	Pancreas	Pancrea
49	chr1:161721200-161734600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:161721200-161734800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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