Variant report

Variant	rs246140
Chromosome Location	chr16:69460532-69460533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69457747..69460846-chr16:69598845..69601292,3	MCF-7	breast:
2	chr16:69448621..69451547-chr16:69459667..69461484,2	MCF-7	breast:
3	chr16:69456628..69460851-chr16:69598482..69601931,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223109	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11075720	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153058	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs246132	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246138	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs246142	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246143	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs246144	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246148	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743670	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4783708	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499227	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7185800	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7206737	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8064195	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs862349	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[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	nsv1064808	chr16:69271190-69552951	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv542940	chr16:69271190-69552951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr16:69458200-69460600	Active TSS	A549	lung
2	chr16:69458200-69460600	Active TSS	Hela-S3	cervix
3	chr16:69458400-69460800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr16:69459200-69460800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:69459200-69460800	Weak transcription	Left Ventricle	heart
6	chr16:69459200-69460800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:69459200-69464400	Weak transcription	Small Intestine	intestine
8	chr16:69459200-69464600	Weak transcription	Pancreas	Pancrea
9	chr16:69459200-69464800	Weak transcription	Lung	lung
10	chr16:69459200-69478000	Weak transcription	Aorta	Aorta
11	chr16:69459400-69460800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:69459400-69460800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr16:69459400-69461000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr16:69459400-69461000	Weak transcription	Placenta	Placenta
15	chr16:69459400-69461400	Weak transcription	Colonic Mucosa	Colon
16	chr16:69459400-69461400	Weak transcription	Ovary	ovary
17	chr16:69459400-69462200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:69459400-69462600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr16:69459400-69462800	Weak transcription	Esophagus	oesophagus
20	chr16:69459400-69469800	Weak transcription	Stomach Mucosa	stomach
21	chr16:69459400-69477800	Weak transcription	Right Ventricle	heart
22	chr16:69459400-69500600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:69459600-69462000	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:69459600-69499000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:69459800-69460600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr16:69459800-69460800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:69459800-69460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:69459800-69460800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:69459800-69460800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr16:69459800-69460800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr16:69459800-69460800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:69459800-69460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:69459800-69460800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:69459800-69460800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:69459800-69460800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr16:69459800-69460800	Weak transcription	Fetal Intestine Large	intestine
37	chr16:69459800-69460800	Weak transcription	Fetal Kidney	kidney
38	chr16:69459800-69460800	Weak transcription	Fetal Stomach	stomach
39	chr16:69459800-69460800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr16:69459800-69460800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:69459800-69460800	Weak transcription	Thymus	Thymus
42	chr16:69459800-69460800	Weak transcription	K562	blood
43	chr16:69459800-69460800	Weak transcription	NH-A	brain
44	chr16:69459800-69460800	Weak transcription	NHEK	skin
45	chr16:69459800-69461000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr16:69459800-69461000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:69459800-69461000	Enhancers	Fetal Brain Male	brain
48	chr16:69459800-69461000	Weak transcription	Fetal Thymus	thymus
49	chr16:69459800-69461200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:69459800-69461200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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