Variant report

Variant	rs16987065
Chromosome Location	chr22:29423652-29423653
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	chr22:29420060..29422045-chr22:29423425..29426418,2	MCF-7	breast:
2	chr22:29195275..29197887-chr22:29421541..29423870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11912894	1.00[CEU][hapmap]
rs11913805	1.00[CEU][hapmap]
rs16987063	0.91[EUR][1000 genomes]
rs16987067	1.00[CEU][hapmap]
rs16987167	1.00[CEU][hapmap]
rs41382448	1.00[CEU][hapmap]
rs4508707	1.00[CEU][hapmap]
rs55693021	0.91[EUR][1000 genomes]
rs55938033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56061941	0.82[EUR][1000 genomes]
rs56734451	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5762930	1.00[CEU][hapmap]
rs5762931	1.00[CEU][hapmap]
rs722590	1.00[CEU][hapmap]
rs725281	1.00[CEU][hapmap]
rs73882427	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73882433	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8138320	1.00[CEU][hapmap]
rs8138963	1.00[CEU][hapmap]
rs8139248	1.00[CEU][hapmap]
rs8140511	1.00[CEU][hapmap]
rs8140748	1.00[CEU][hapmap]
rs8141696	1.00[CEU][hapmap]
rs8141812	1.00[CEU][hapmap]
rs9620871	1.00[CEU][hapmap]
rs9620872	1.00[CEU][hapmap]
rs974370	1.00[CEU][hapmap]

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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29400600-29425400	Weak transcription	NHEK	skin
2	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:29405400-29424600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:29410400-29424800	Weak transcription	Psoas Muscle	Psoas
6	chr22:29412400-29424200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:29415200-29424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:29415200-29426200	Weak transcription	Aorta	Aorta
9	chr22:29419600-29424200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:29419600-29424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:29419600-29425000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr22:29419600-29425000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:29419600-29425000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:29419600-29425600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:29419600-29426000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:29419600-29426200	Weak transcription	HSMM	muscle
17	chr22:29419800-29424600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:29419800-29424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:29419800-29425400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:29419800-29425800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr22:29419800-29426000	Weak transcription	Fetal Muscle Leg	muscle
22	chr22:29419800-29426200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:29419800-29426200	Weak transcription	Ovary	ovary
24	chr22:29419800-29426200	Weak transcription	Right Atrium	heart
25	chr22:29420000-29424000	Weak transcription	Fetal Lung	lung
26	chr22:29420000-29424200	Weak transcription	Fetal Stomach	stomach
27	chr22:29420000-29424400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:29420000-29424400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr22:29420000-29424400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr22:29420000-29424600	Weak transcription	Gastric	stomach
31	chr22:29420000-29424600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:29420000-29424600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:29420000-29424800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:29420000-29425400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:29420000-29425400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr22:29420000-29425400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr22:29420000-29426400	Weak transcription	Esophagus	oesophagus
38	chr22:29420000-29426400	Weak transcription	Left Ventricle	heart
39	chr22:29420000-29426400	Weak transcription	Lung	lung
40	chr22:29420000-29426400	Weak transcription	Right Ventricle	heart
41	chr22:29420400-29424200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:29420400-29424200	Weak transcription	A549	lung
43	chr22:29420600-29423800	Weak transcription	Liver	Liver
44	chr22:29420600-29424200	Weak transcription	Stomach Mucosa	stomach
45	chr22:29420600-29424400	Weak transcription	K562	blood
46	chr22:29420600-29424600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:29420600-29424600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr22:29420600-29424800	Weak transcription	Brain Anterior Caudate	brain
49	chr22:29420600-29425000	Weak transcription	Pancreas	Pancrea
50	chr22:29420600-29425800	Weak transcription	HUVEC	blood vessel

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