Variant report

Variant	rs16986719
Chromosome Location	chr22:29189899-29189900
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29162995..29164989-chr22:29188685..29191039,2	MCF-7	breast:
2	chr22:29188183..29190691-chr22:29223821..29225664,2	K562	blood:
3	chr22:28986053..28988845-chr22:29188910..29191071,2	K562	blood:
4	chr22:29137327..29140027-chr22:29189364..29191172,3	MCF-7	breast:
5	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:
6	chr22:29134319..29139472-chr22:29186598..29194420,8	K562	blood:
7	chr22:29189258..29191243-chr22:29893230..29895527,2	K562	blood:
8	chr22:29002103..29004832-chr22:29188346..29190789,2	MCF-7	breast:
9	chr22:29165808..29174203-chr22:29186827..29200037,34	MCF-7	breast:
10	chr22:29166664..29171376-chr22:29189061..29194611,6	MCF-7	breast:
11	chr22:28995890..28998730-chr22:29188380..29190809,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100209	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000159873	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16986711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986739	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17882867	0.84[ASN][1000 genomes]
rs17883328	0.84[ASN][1000 genomes]
rs1805129	0.84[ASN][1000 genomes]
rs59025667	0.94[ASN][1000 genomes]
rs6005851	0.84[ASN][1000 genomes]
rs60740682	0.97[ASN][1000 genomes]
rs61205046	0.88[ASN][1000 genomes]
rs9625587	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	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
3	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers 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	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29169800-29190400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29170000-29190200	Weak transcription	Fetal Heart	heart
3	chr22:29170000-29194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr22:29173800-29193000	Weak transcription	Right Atrium	heart
5	chr22:29176800-29190200	Weak transcription	Hela-S3	cervix
6	chr22:29180400-29191000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:29180600-29191000	Weak transcription	Small Intestine	intestine
8	chr22:29180800-29190200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:29181600-29191000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:29182000-29191000	Weak transcription	Fetal Brain Male	brain
11	chr22:29182400-29190000	Weak transcription	Stomach Mucosa	stomach
12	chr22:29182400-29190000	Weak transcription	HSMMtube	muscle
13	chr22:29182400-29190000	Weak transcription	NHEK	skin
14	chr22:29182400-29190200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:29182400-29190800	Weak transcription	Gastric	stomach
16	chr22:29182400-29191200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:29182600-29190200	Weak transcription	A549	lung
18	chr22:29182600-29190800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:29182600-29191000	Weak transcription	Ovary	ovary
20	chr22:29182600-29191200	Weak transcription	Esophagus	oesophagus
21	chr22:29182800-29190000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:29182800-29190000	Weak transcription	Right Ventricle	heart
23	chr22:29182800-29190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:29183000-29190000	Weak transcription	Brain Anterior Caudate	brain
25	chr22:29183000-29190000	Weak transcription	Fetal Kidney	kidney
26	chr22:29183000-29190000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr22:29183000-29190200	Weak transcription	K562	blood
28	chr22:29183200-29190000	Weak transcription	Brain Substantia Nigra	brain
29	chr22:29183400-29190000	Weak transcription	Psoas Muscle	Psoas
30	chr22:29183600-29190000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr22:29183600-29190200	Genic enhancers	Dnd41	blood
32	chr22:29183600-29191000	Weak transcription	Spleen	Spleen
33	chr22:29183800-29190000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:29183800-29190200	Weak transcription	Colonic Mucosa	Colon
35	chr22:29183800-29191000	Weak transcription	Aorta	Aorta
36	chr22:29184000-29190000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr22:29184200-29190600	Weak transcription	Brain Germinal Matrix	brain
38	chr22:29184400-29190000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr22:29184400-29190000	Weak transcription	Brain Angular Gyrus	brain
40	chr22:29184400-29190000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr22:29184400-29190000	Weak transcription	HUVEC	blood vessel
42	chr22:29184600-29190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:29185200-29190000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr22:29185600-29190000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:29185600-29190000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:29185600-29190000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr22:29185600-29190000	Weak transcription	Liver	Liver
48	chr22:29185600-29190000	Weak transcription	Left Ventricle	heart
49	chr22:29185600-29190000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr22:29185600-29190000	Weak transcription	HSMM	muscle

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