Variant report

Variant	rs72873841
Chromosome Location	chr2:37218757-37218758
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	chr2:37214250..37217213-chr2:37218281..37220281,2	K562	blood:
2	chr2:37218150..37220358-chr2:37221248..37224159,2	K562	blood:

Variant related genes	Relation type
ENSG00000008869	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1008839	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105607	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105781	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13383000	0.83[ASN][1000 genomes]
rs13408302	0.83[ASN][1000 genomes]
rs13408514	0.83[ASN][1000 genomes]
rs13425754	0.84[EUR][1000 genomes]
rs17020147	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17332671	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17404648	0.83[ASN][1000 genomes]
rs17497654	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110997	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2247010	0.83[ASN][1000 genomes]
rs2372444	0.83[ASN][1000 genomes]
rs28429673	0.83[ASN][1000 genomes]
rs55800939	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56157221	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58762847	0.83[ASN][1000 genomes]
rs6716891	0.83[ASN][1000 genomes]
rs6717174	0.83[ASN][1000 genomes]
rs6731315	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873844	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873849	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873859	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72873862	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873867	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873871	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562158	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7573717	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600245	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv581471	chr2:37213186-37257386	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37194400-37229000	Weak transcription	Gastric	stomach
2	chr2:37194800-37226400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:37194800-37232400	Weak transcription	NHLF	lung
4	chr2:37195000-37224200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:37195200-37225400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:37195400-37227400	Weak transcription	A549	lung
8	chr2:37195400-37227600	Weak transcription	HUVEC	blood vessel
9	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:37195600-37231400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:37195800-37229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:37196200-37226400	Weak transcription	Dnd41	blood
13	chr2:37201000-37225200	Weak transcription	K562	blood
14	chr2:37202000-37228800	Weak transcription	Spleen	Spleen
15	chr2:37202800-37228800	Weak transcription	Aorta	Aorta
16	chr2:37203600-37231600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:37204200-37227600	Weak transcription	HepG2	liver
18	chr2:37204400-37228800	Weak transcription	Esophagus	oesophagus
19	chr2:37205200-37220800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:37205200-37229400	Weak transcription	Brain Substantia Nigra	brain
21	chr2:37205600-37225200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:37206800-37227400	Weak transcription	NHEK	skin
23	chr2:37207000-37225200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:37207800-37224400	Weak transcription	Fetal Lung	lung
25	chr2:37207800-37225400	Weak transcription	Primary B cells from cord blood	blood
26	chr2:37208600-37226400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:37208800-37227600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:37209000-37225400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:37209000-37225400	Weak transcription	GM12878-XiMat	blood
30	chr2:37209000-37228600	Weak transcription	Psoas Muscle	Psoas
31	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
32	chr2:37210200-37227600	Weak transcription	Fetal Heart	heart
33	chr2:37210600-37224000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:37211200-37221800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:37211400-37238200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:37211800-37221200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:37212400-37229000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:37212600-37225400	Weak transcription	HSMM	muscle
39	chr2:37212800-37232000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:37213200-37221800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:37213200-37227400	Weak transcription	Hela-S3	cervix
42	chr2:37213800-37220800	Strong transcription	Fetal Stomach	stomach
43	chr2:37214200-37248400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:37214400-37225600	Weak transcription	Fetal Kidney	kidney
45	chr2:37214400-37226200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:37214600-37224200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:37214600-37229000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:37214600-37229200	Weak transcription	HSMMtube	muscle
49	chr2:37215200-37226400	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:37215200-37231000	Weak transcription	HMEC	breast

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