Variant report

Variant	rs11865484
Chromosome Location	chr16:70469816-70469817
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	chr16:70469678..70473680-chr16:70486697..70489592,5	K562	blood:
2	chr16:70414149..70416279-chr16:70469419..70471972,3	MCF-7	breast:
3	chr16:70467847..70470398-chr16:70470451..70473033,2	MCF-7	breast:
4	chr16:70469000..70470691-chr16:70558563..70560602,2	K562	blood:
5	chr16:70459077..70461181-chr16:70469014..70470537,2	MCF-7	breast:
6	chr16:70446187..70457827-chr16:70459568..70470659,26	K562	blood:
7	chr16:70432075..70434927-chr16:70469206..70471536,2	K562	blood:
8	chr16:70414402..70416490-chr16:70467448..70469871,2	K562	blood:
9	chr16:70321648..70324459-chr16:70468498..70470626,2	K562	blood:
10	chr16:70431049..70433575-chr16:70469316..70471536,2	K562	blood:
11	chr16:70469191..70470830-chr16:70558563..70561045,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157349	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs11859191	1.00[EUR][1000 genomes]
rs11859870	0.92[AMR][1000 genomes]
rs11861486	0.92[AMR][1000 genomes]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864179	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864326	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11865564	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970121	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970133	0.92[AMR][1000 genomes]
rs16970141	0.83[AMR][1000 genomes]
rs16970147	1.00[EUR][1000 genomes]
rs16970149	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970152	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970153	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970159	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16970165	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970169	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16970302	1.00[EUR][1000 genomes]
rs17878609	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17879665	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17880268	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	1.00[EUR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4999488	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55775924	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55916527	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55936739	1.00[EUR][1000 genomes]
rs56050266	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56082018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56348821	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56836664	0.92[AMR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57422630	1.00[EUR][1000 genomes]
rs58047061	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	1.00[EUR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59552467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs59928915	0.83[AMR][1000 genomes]
rs60011151	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60045805	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs60387488	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs60646112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60815141	1.00[EUR][1000 genomes]
rs61266247	0.83[AMR][1000 genomes]
rs61284127	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61319691	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61369696	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499312	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7188864	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7190536	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7190921	1.00[EUR][1000 genomes]
rs7192000	1.00[EUR][1000 genomes]
rs7195086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195104	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198871	1.00[EUR][1000 genomes]
rs7199346	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199655	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203548	0.92[AMR][1000 genomes]
rs7203761	0.92[AMR][1000 genomes]
rs7205918	1.00[EUR][1000 genomes]
rs7206347	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024182	1.00[EUR][1000 genomes]
rs74024183	1.00[EUR][1000 genomes]
rs74024184	1.00[EUR][1000 genomes]
rs74024185	1.00[EUR][1000 genomes]
rs74024186	1.00[EUR][1000 genomes]
rs74024188	1.00[EUR][1000 genomes]
rs74026022	1.00[EUR][1000 genomes]
rs74026026	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026033	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026049	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045571	1.00[EUR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046662	1.00[EUR][1000 genomes]
rs8046786	1.00[EUR][1000 genomes]
rs8049046	1.00[EUR][1000 genomes]
rs8053657	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053883	0.92[AMR][1000 genomes]
rs8054203	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056811	1.00[EUR][1000 genomes]
rs8058735	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062602	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064090	1.00[EUR][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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr16:70453800-70470800	Genic enhancers	Fetal Intestine Small	intestine
2	chr16:70465400-70470600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:70465400-70471600	Weak transcription	Pancreas	Pancrea
4	chr16:70465600-70470400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr16:70466800-70470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:70467000-70470800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr16:70467200-70470400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr16:70467200-70471400	Enhancers	Duodenum Mucosa	Duodenum
9	chr16:70467600-70470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:70467600-70470600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:70467600-70470600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:70467600-70471000	Weak transcription	Brain Substantia Nigra	brain
13	chr16:70467800-70470200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:70467800-70470800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:70467800-70470800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:70468000-70470400	Weak transcription	Fetal Kidney	kidney
17	chr16:70468000-70470400	Weak transcription	Small Intestine	intestine
18	chr16:70468000-70470600	Weak transcription	Stomach Mucosa	stomach
19	chr16:70468000-70470600	Weak transcription	HSMMtube	muscle
20	chr16:70468000-70470800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:70468000-70470800	Weak transcription	Brain Germinal Matrix	brain
22	chr16:70468000-70470800	Weak transcription	Brain Hippocampus Middle	brain
23	chr16:70468000-70470800	Genic enhancers	Fetal Muscle Leg	muscle
24	chr16:70468000-70470800	Weak transcription	NHEK	skin
25	chr16:70468000-70471000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr16:70468000-70471400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr16:70468200-70470400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:70468200-70470600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:70468200-70470800	Weak transcription	Colonic Mucosa	Colon
30	chr16:70468200-70470800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr16:70468400-70470200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:70468400-70470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:70468600-70470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr16:70468600-70470200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:70468600-70470200	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:70468600-70470400	Weak transcription	Ovary	ovary
37	chr16:70468600-70470600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:70468600-70470600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr16:70468600-70470600	Weak transcription	HMEC	breast
40	chr16:70468600-70470800	Weak transcription	Brain Angular Gyrus	brain
41	chr16:70468600-70471600	Weak transcription	Aorta	Aorta
42	chr16:70468800-70470400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:70468800-70470600	Weak transcription	Adipose Nuclei	Adipose
44	chr16:70468800-70470600	Weak transcription	Fetal Brain Male	brain
45	chr16:70468800-70470800	Weak transcription	Liver	Liver
46	chr16:70468800-70471000	Weak transcription	Esophagus	oesophagus
47	chr16:70468800-70471200	Weak transcription	Gastric	stomach
48	chr16:70468800-70471200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr16:70469000-70470000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr16:70469000-70470200	Weak transcription	NHLF	lung

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