Variant report

Variant	rs73913927
Chromosome Location	chr2:10092373-10092374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
2	chr2:9770089..9772474-chr2:10090151..10092445,2	K562	blood:
3	chr2:10091739..10097867-chr2:10098252..10106254,13	K562	blood:
4	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
5	chr2:10092110..10094474-chr2:10182208..10184991,2	K562	blood:
6	chr2:10090913..10094433-chr2:10181887..10185131,5	K562	blood:
7	chr2:10091367..10094043-chr2:10260841..10262617,2	K562	blood:
8	chr2:10090511..10093177-chr2:10182491..10184266,3	MCF-7	breast:
9	chr2:9777094..9779295-chr2:10091033..10093180,2	MCF-7	breast:
10	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
11	chr2:10090160..10094173-chr2:10181224..10185885,6	MCF-7	breast:
12	chr2:9983066..9987186-chr2:10091615..10095343,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000240687	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13401891	0.81[ASN][1000 genomes]
rs3828262	0.81[ASN][1000 genomes]
rs7604794	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised 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	32 gene(s)	inside rSNPs	diseases
7	esv3409366	chr2:10090126-10092874	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3369173	chr2:10090451-10093249	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3326017	chr2:10090726-10093274	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10090000-10092800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:10090200-10092600	Active TSS	Gastric	stomach
3	chr2:10090400-10093000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:10090600-10092400	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr2:10090600-10092600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10090600-10092600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:10090600-10092600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr2:10090600-10092600	Active TSS	Colon Smooth Muscle	Colon
9	chr2:10090600-10092800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:10090600-10092800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:10090600-10092800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr2:10090600-10092800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:10090600-10092800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:10090600-10092800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:10090600-10092800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:10090600-10092800	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr2:10090800-10092400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:10090800-10092400	Active TSS	Primary T cells from cord blood	blood
19	chr2:10090800-10092400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:10090800-10092400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr2:10090800-10092400	Active TSS	Liver	Liver
22	chr2:10090800-10092400	Active TSS	HSMMtube	muscle
23	chr2:10090800-10092400	Active TSS	NHDF-Ad	bronchial
24	chr2:10090800-10092400	Active TSS	NHEK	skin
25	chr2:10090800-10092600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr2:10090800-10092600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr2:10090800-10092600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:10090800-10092600	Active TSS	Left Ventricle	heart
29	chr2:10090800-10092600	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:10090800-10092600	Active TSS	A549	lung
31	chr2:10090800-10092600	Active TSS	NHLF	lung
32	chr2:10090800-10092800	Active TSS	Brain Angular Gyrus	brain
33	chr2:10090800-10092800	Active TSS	Brain Anterior Caudate	brain
34	chr2:10090800-10092800	Active TSS	Brain Cingulate Gyrus	brain
35	chr2:10090800-10092800	Active TSS	Psoas Muscle	Psoas
36	chr2:10090800-10093000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:10090800-10093400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:10090800-10093400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:10090800-10093600	Active TSS	Esophagus	oesophagus
40	chr2:10091000-10092400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:10091000-10092400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr2:10091000-10092400	Active TSS	Primary B cells from peripheral blood	blood
43	chr2:10091000-10092400	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr2:10091000-10092400	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr2:10091000-10092400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:10091000-10092400	Active TSS	Aorta	Aorta
47	chr2:10091000-10092400	Active TSS	Brain Substantia Nigra	brain
48	chr2:10091000-10092400	Active TSS	Fetal Intestine Large	intestine
49	chr2:10091000-10092400	Active TSS	Fetal Muscle Leg	muscle
50	chr2:10091000-10092400	Bivalent/Poised TSS	Fetal Stomach	stomach

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