Variant report

Variant	rs60561321
Chromosome Location	chr2:113519954-113519955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113511556..113515494-chr2:113516132..113520858,6	K562	blood:
2	chr2:113508884..113510742-chr2:113519395..113521615,3	K562	blood:
3	chr2:113519458..113523816-chr2:113539890..113544534,4	K562	blood:

Variant related genes	Relation type
ENSG00000115008	Chromatin interaction
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs36046436	0.90[AFR][1000 genomes]
rs3783564	1.00[AFR][1000 genomes]
rs3783587	1.00[AFR][1000 genomes]
rs58616713	0.90[AFR][1000 genomes]
rs59731251	0.85[AFR][1000 genomes]
rs60366269	1.00[AFR][1000 genomes]
rs6542098	0.84[AFR][1000 genomes]
rs6707053	1.00[AFR][1000 genomes]
rs6714649	0.90[AFR][1000 genomes]
rs6722548	0.90[AFR][1000 genomes]
rs6728739	0.90[AFR][1000 genomes]
rs6740867	1.00[AFR][1000 genomes]
rs6755922	0.90[AFR][1000 genomes]
rs6756171	0.90[AFR][1000 genomes]
rs6756392	0.90[AFR][1000 genomes]
rs72950356	0.90[AFR][1000 genomes]
rs72950390	1.00[AFR][1000 genomes]
rs72950392	0.90[AFR][1000 genomes]
rs72952107	0.90[AFR][1000 genomes]
rs72952126	0.90[AFR][1000 genomes]
rs72952131	1.00[AFR][1000 genomes]
rs72952187	0.95[AFR][1000 genomes]
rs7609207	0.90[AFR][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
5	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:113506400-113520200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:113507200-113520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:113507400-113520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:113507800-113520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:113508000-113520000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:113508200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:113508200-113521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:113508400-113520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:113509800-113521200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:113510200-113521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:113510600-113520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:113512600-113520800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:113512600-113521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:113512800-113520600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:113512800-113521200	Weak transcription	Primary B cells from cord blood	blood
25	chr2:113512800-113521200	Weak transcription	Placenta	Placenta
26	chr2:113514000-113521000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:113514200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:113514400-113520400	Weak transcription	Fetal Brain Female	brain
29	chr2:113514400-113520600	Weak transcription	Fetal Lung	lung
30	chr2:113514400-113521200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:113514600-113521200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:113514600-113521200	Weak transcription	Fetal Kidney	kidney
33	chr2:113514800-113520600	Weak transcription	NH-A	brain
34	chr2:113514800-113520800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:113514800-113521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:113515000-113520600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:113515200-113520400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:113515400-113520200	Weak transcription	Fetal Intestine Small	intestine
39	chr2:113515400-113520600	Weak transcription	Fetal Stomach	stomach
40	chr2:113515400-113521200	Weak transcription	Fetal Brain Male	brain
41	chr2:113515400-113521200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:113515400-113521600	Weak transcription	Spleen	Spleen
43	chr2:113515600-113521600	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:113516200-113521000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:113516200-113521200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:113516200-113521600	Weak transcription	Liver	Liver
47	chr2:113516400-113520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:113516600-113520800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:113516600-113521600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:113517000-113521400	Weak transcription	Rectal Smooth Muscle	rectum

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