Variant report

Variant	rs2189885
Chromosome Location	chr7:13941538-13941539
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13940952..13942572-chr7:13946206..13948609,2	K562	blood:
2	chr7:13921967..13924964-chr7:13941231..13943091,2	K562	blood:
3	chr7:13937992..13940139-chr7:13941426..13943158,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11980448	1.00[EUR][1000 genomes]
rs11980482	1.00[EUR][1000 genomes]
rs11983157	1.00[EUR][1000 genomes]
rs17167626	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs17167631	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41370744	0.90[MKK][hapmap]
rs55689802	1.00[EUR][1000 genomes]
rs6972049	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs73068128	1.00[EUR][1000 genomes]
rs73068148	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068169	0.89[EUR][1000 genomes]
rs73068171	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73068180	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7776462	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv606277	chr7:13907827-13967377	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv606278	chr7:13931182-13959406	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13920600-13943000	Weak transcription	NHDF-Ad	bronchial
2	chr7:13920600-13945600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:13920800-13943600	Weak transcription	NHLF	lung
4	chr7:13921400-13943400	Weak transcription	Osteobl	bone
5	chr7:13928400-13943600	Weak transcription	NH-A	brain
6	chr7:13930200-13945200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:13930400-13945200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:13930600-13948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:13930800-13951800	Weak transcription	Fetal Kidney	kidney
10	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:13931000-13947800	Weak transcription	Right Ventricle	heart
12	chr7:13932000-13952800	Weak transcription	Adipose Nuclei	Adipose
13	chr7:13932200-13949600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:13932200-13949600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:13933600-13943800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:13933800-13941600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:13933800-13983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:13934000-13945200	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:13934200-13947600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:13934200-13968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:13934800-13959800	Weak transcription	Pancreas	Pancrea
22	chr7:13935000-13948400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:13935600-13941600	Weak transcription	Lung	lung
24	chr7:13935800-13943600	Weak transcription	Fetal Lung	lung
25	chr7:13935800-13951600	Weak transcription	Aorta	Aorta
26	chr7:13937600-13945200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:13938000-13943400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:13938200-13942000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:13938200-13943800	Weak transcription	Fetal Brain Male	brain
30	chr7:13938200-13948000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:13938400-13948400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:13938800-13941800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:13939000-13943000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:13939200-13943400	Weak transcription	Fetal Intestine Large	intestine
35	chr7:13939200-13943600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:13939200-13952200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:13939400-13941600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:13939400-13943800	Weak transcription	Fetal Heart	heart
39	chr7:13939400-13951200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:13939800-13945200	Weak transcription	Liver	Liver
41	chr7:13939800-13945400	Weak transcription	Left Ventricle	heart
42	chr7:13940400-13942400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:13940800-13945600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:13941400-13941800	Enhancers	Right Atrium	heart

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