Variant report

Variant	rs73169924
Chromosome Location	chr2:10827341-10827342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10584788..10589777-chr2:10826863..10830293,6	K562	blood:
2	chr2:10825832..10829197-chr2:10829233..10832096,3	K562	blood:

Variant related genes	Relation type
ENSG00000257135	Chromatin interaction
ENSG00000243819	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000115761	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs2171771	1.00[AMR][1000 genomes]
rs56702784	1.00[AMR][1000 genomes]
rs56914795	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57125237	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57309175	1.00[AMR][1000 genomes]
rs57382387	1.00[AMR][1000 genomes]
rs57464659	1.00[AMR][1000 genomes]
rs57597544	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58214362	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58838965	1.00[AMR][1000 genomes]
rs58886768	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59114654	1.00[AMR][1000 genomes]
rs59640725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60016454	1.00[AMR][1000 genomes]
rs60286502	1.00[AMR][1000 genomes]
rs60384217	1.00[AMR][1000 genomes]
rs60489255	1.00[AMR][1000 genomes]
rs61167760	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749287	1.00[AMR][1000 genomes]
rs73165980	1.00[AMR][1000 genomes]
rs73167824	1.00[AMR][1000 genomes]
rs73167845	1.00[AMR][1000 genomes]
rs73167849	1.00[AMR][1000 genomes]
rs73167864	1.00[AMR][1000 genomes]
rs73167887	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167897	1.00[AMR][1000 genomes]
rs73167901	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169906	1.00[AMR][1000 genomes]
rs73169907	1.00[AMR][1000 genomes]
rs73169908	1.00[AMR][1000 genomes]
rs73169912	0.83[AFR][1000 genomes]
rs73169917	1.00[AMR][1000 genomes]
rs73169921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169922	1.00[AMR][1000 genomes]
rs73169925	1.00[AMR][1000 genomes]
rs73169929	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169933	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587281	1.00[AMR][1000 genomes]
rs7601546	0.94[AFR][1000 genomes]
rs7607468	1.00[AMR][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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
3	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
4	chr2:10793800-10828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:10794600-10828200	Weak transcription	Stomach Mucosa	stomach
6	chr2:10794600-10828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:10795200-10828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:10800200-10829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:10802400-10828200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:10803600-10828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:10805000-10829200	Weak transcription	Aorta	Aorta
12	chr2:10806200-10828200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:10807600-10828000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:10808200-10828000	Weak transcription	Gastric	stomach
15	chr2:10808200-10828400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:10808400-10828000	Weak transcription	NHLF	lung
17	chr2:10812400-10827400	Weak transcription	Esophagus	oesophagus
18	chr2:10812400-10827400	Weak transcription	Right Ventricle	heart
19	chr2:10813200-10827400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:10813200-10828000	Weak transcription	Lung	lung
21	chr2:10813200-10828200	Weak transcription	Small Intestine	intestine
22	chr2:10813200-10828400	Weak transcription	HSMMtube	muscle
23	chr2:10813200-10829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:10815000-10827600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:10816400-10827400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:10817800-10829400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10818400-10828200	Weak transcription	Fetal Intestine Large	intestine
28	chr2:10819200-10828400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:10820600-10827600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:10821000-10827400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:10821000-10828600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:10821600-10827800	Weak transcription	Right Atrium	heart
33	chr2:10821600-10828200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:10821800-10828000	Weak transcription	NHDF-Ad	bronchial
35	chr2:10821800-10828600	Weak transcription	Fetal Kidney	kidney
36	chr2:10821800-10828800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:10822000-10828400	Weak transcription	NH-A	brain
38	chr2:10822200-10827600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:10822200-10828000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:10822200-10828400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:10822200-10828400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:10822400-10828000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:10823200-10827600	Strong transcription	Brain Cingulate Gyrus	brain
44	chr2:10824000-10828000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:10824000-10828000	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:10824000-10828200	Weak transcription	Adipose Nuclei	Adipose
47	chr2:10824000-10828200	Weak transcription	Psoas Muscle	Psoas
48	chr2:10824000-10828200	Weak transcription	HMEC	breast
49	chr2:10824000-10828200	Weak transcription	Osteobl	bone
50	chr2:10824000-10828400	Weak transcription	H1 Cell Line	embryonic stem cell

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