Variant report

Variant	rs73924918
Chromosome Location	chr2:39975313-39975314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39975048..39977790-chr2:39997360..39998912,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10198734	1.00[EUR][1000 genomes]
rs13395966	1.00[EUR][1000 genomes]
rs17024154	0.96[EUR][1000 genomes]
rs17024276	0.96[EUR][1000 genomes]
rs17024299	1.00[EUR][1000 genomes]
rs17024307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024325	1.00[EUR][1000 genomes]
rs2058621	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110672	1.00[EUR][1000 genomes]
rs2110673	1.00[EUR][1000 genomes]
rs2160207	1.00[EUR][1000 genomes]
rs2192712	1.00[EUR][1000 genomes]
rs2540234	0.84[EUR][1000 genomes]
rs2716706	1.00[EUR][1000 genomes]
rs2716724	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2716726	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2716731	0.84[AFR][1000 genomes]
rs2716734	1.00[EUR][1000 genomes]
rs57481251	0.86[AFR][1000 genomes]
rs57704430	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60003713	1.00[EUR][1000 genomes]
rs6708232	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716262	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745129	1.00[EUR][1000 genomes]
rs73924911	0.87[AFR][1000 genomes]
rs73924912	0.84[AFR][1000 genomes]
rs73924913	0.87[AFR][1000 genomes]
rs73924914	0.86[AFR][1000 genomes]
rs73924917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924920	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924934	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576551	0.88[EUR][1000 genomes]
rs7604790	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
2	chr2:39960200-39987200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:39960400-39983000	Weak transcription	Stomach Mucosa	stomach
4	chr2:39961400-39984200	Weak transcription	Colonic Mucosa	Colon
5	chr2:39962200-39986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:39962200-39993200	Strong transcription	Liver	Liver
7	chr2:39962800-39980200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:39963200-39982000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:39964000-39976800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:39964200-39976800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:39964200-39977000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:39964200-39977400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:39964200-39984200	Weak transcription	Psoas Muscle	Psoas
14	chr2:39964400-39977000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:39964800-39983000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:39965200-39976600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:39965200-39980000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:39965200-39983000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:39965200-40005000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:39965200-40005400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:39965400-39984200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:39965600-39975400	Weak transcription	Fetal Kidney	kidney
23	chr2:39966600-39976800	Weak transcription	Small Intestine	intestine
24	chr2:39966800-39975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:39966800-39980000	Weak transcription	Esophagus	oesophagus
26	chr2:39966800-39980200	Weak transcription	Lung	lung
27	chr2:39966800-39983200	Weak transcription	Spleen	Spleen
28	chr2:39967000-39976200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:39967000-39976800	Weak transcription	Gastric	stomach
30	chr2:39967000-39981000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:39967000-39983000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:39967000-39983200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:39967000-39983400	Weak transcription	Aorta	Aorta
34	chr2:39967200-39976600	Weak transcription	Brain Germinal Matrix	brain
35	chr2:39967200-39983000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:39967600-39976800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:39967600-39991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:39967800-39976400	Weak transcription	Brain Anterior Caudate	brain
39	chr2:39969800-39999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:39970000-39975400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:39970000-39976800	Weak transcription	HSMMtube	muscle
42	chr2:39970200-39978200	Weak transcription	GM12878-XiMat	blood
43	chr2:39970600-39976200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:39970800-39976800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:39970800-39983000	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:39971000-39975800	Weak transcription	Fetal Brain Female	brain
47	chr2:39971000-39976000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:39971000-39976000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:39971000-39976400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:39971000-39976400	Weak transcription	Stomach Smooth Muscle	stomach

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