Variant report

Variant	rs2020911
Chromosome Location	chr2:48030838-48030839
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48028902..48031846-chr2:48031868..48034895,3	K562	blood:
2	chr2:48009689..48012474-chr2:48029068..48031018,2	K562	blood:
3	chr2:48016706..48019633-chr2:48029423..48031526,2	K562	blood:
4	chr2:48008730..48016091-chr2:48023378..48031018,13	K562	blood:
5	chr2:48029284..48031152-chr2:48035129..48037209,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138081	Chromatin interaction
ENSG00000116062	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12620679	0.90[ASW][hapmap];0.84[CEU][hapmap];0.83[MEX][hapmap]
rs12712997	0.85[CEU][hapmap];0.84[CHB][hapmap];0.93[YRI][hapmap]
rs2651766	0.91[ASW][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap]
rs2710163	0.91[ASW][hapmap];0.81[CEU][hapmap];0.86[GIH][hapmap];0.82[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3136245	0.90[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs330787	0.81[YRI][hapmap]

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	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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
4	nsv933254	chr2:48030506-48032323	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48012600-48065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:48016200-48050400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:48017000-48036200	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr2:48017000-48049400	Strong transcription	Fetal Intestine Large	intestine
5	chr2:48017200-48053200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:48017400-48032200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:48017400-48049600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:48017800-48037800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:48021200-48036200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:48021200-48036400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:48021200-48051600	Strong transcription	Placenta	Placenta
12	chr2:48021400-48032600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:48021400-48037200	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr2:48021400-48067600	Strong transcription	Dnd41	blood
15	chr2:48021600-48037400	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:48021600-48037800	Strong transcription	HepG2	liver
17	chr2:48021600-48067000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:48021800-48035200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:48021800-48037400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:48021800-48039800	Strong transcription	Brain Anterior Caudate	brain
21	chr2:48022000-48036200	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr2:48022000-48041400	Strong transcription	HSMM	muscle
23	chr2:48022200-48037600	Strong transcription	Osteobl	bone
24	chr2:48022200-48050200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:48022800-48049200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:48022800-48050000	Strong transcription	HUVEC	blood vessel
27	chr2:48023000-48036000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:48023200-48065000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:48023400-48036200	Strong transcription	HSMMtube	muscle
30	chr2:48023600-48033800	Strong transcription	Left Ventricle	heart
31	chr2:48023800-48033200	Strong transcription	Fetal Brain Male	brain
32	chr2:48024200-48038400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:48024400-48038400	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr2:48024600-48032200	Strong transcription	Spleen	Spleen
35	chr2:48024600-48033800	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:48024600-48035600	Strong transcription	Rectal Smooth Muscle	rectum
37	chr2:48025200-48033600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:48025200-48035600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:48025600-48033000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:48027000-48031400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr2:48027400-48031200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:48027600-48031800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:48028200-48033000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:48028600-48031400	Strong transcription	Aorta	Aorta
45	chr2:48028800-48031000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:48029200-48031000	ZNF genes & repeats	A549	lung
47	chr2:48029200-48031200	ZNF genes & repeats	K562	blood
48	chr2:48029200-48040200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:48029400-48031200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr2:48029400-48031400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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