Variant report

Variant	rs11865863
Chromosome Location	chr16:70339992-70339993
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70321312..70323493-chr16:70338115..70340559,2	MCF-7	breast:
2	chr16:70319890..70322761-chr16:70339573..70342006,2	K562	blood:
3	chr16:70332738..70336879-chr16:70337579..70341949,6	MCF-7	breast:
4	chr16:70338862..70341028-chr16:70375885..70378298,2	MCF-7	breast:
5	chr16:70332960..70334617-chr16:70337801..70340497,2	MCF-7	breast:
6	chr16:70338003..70340478-chr16:70365568..70367994,2	K562	blood:

Variant related genes	Relation type
ENSG00000157349	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11861246	0.84[AFR][1000 genomes]
rs11865368	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866628	1.00[AMR][1000 genomes]
rs11867150	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs16970135	0.89[AFR][1000 genomes]
rs16970154	0.87[ASW][hapmap];0.91[YRI][hapmap]
rs16970191	0.91[YRI][hapmap]
rs17878599	1.00[MKK][hapmap]
rs17878832	1.00[AMR][1000 genomes]
rs17879608	1.00[AMR][1000 genomes]
rs17880242	1.00[AMR][1000 genomes]
rs17880392	1.00[AMR][1000 genomes]
rs17882800	1.00[AMR][1000 genomes]
rs17883309	1.00[AMR][1000 genomes]
rs17885061	1.00[MKK][hapmap]
rs17885493	1.00[AMR][1000 genomes]
rs4999489	1.00[AMR][1000 genomes]
rs6499313	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs6499315	1.00[AMR][1000 genomes]
rs6499316	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs6499319	1.00[AMR][1000 genomes]
rs7187719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7193168	0.87[AFR][1000 genomes]
rs8044110	1.00[AMR][1000 genomes]
rs8044956	1.00[AMR][1000 genomes]
rs8049164	1.00[MKK][hapmap]
rs8058032	1.00[AMR][1000 genomes]
rs8062097	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8064090	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	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
5	esv20407	chr16:70338596-70341204	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70343800	Weak transcription	Lung	lung
2	chr16:70333800-70348800	Weak transcription	Placenta	Placenta
3	chr16:70333800-70349600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:70333800-70350200	Weak transcription	Gastric	stomach
5	chr16:70333800-70350800	Weak transcription	Aorta	Aorta
6	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
7	chr16:70334000-70348800	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:70334000-70349400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:70334000-70349400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:70334000-70349400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr16:70334000-70349400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:70334000-70349400	Weak transcription	HSMMtube	muscle
13	chr16:70334000-70349800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr16:70334000-70349800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:70334000-70349800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:70334000-70349800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:70334000-70349800	Weak transcription	Ovary	ovary
18	chr16:70334000-70349800	Weak transcription	Right Ventricle	heart
19	chr16:70334000-70349800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:70334000-70350200	Weak transcription	Left Ventricle	heart
21	chr16:70334000-70350400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
23	chr16:70334200-70349800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:70334200-70349800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr16:70334200-70350000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
27	chr16:70334400-70340000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:70334400-70349400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr16:70334400-70349800	Weak transcription	Esophagus	oesophagus
30	chr16:70334800-70349400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr16:70334800-70349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr16:70335200-70344200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:70335200-70347000	Weak transcription	Adipose Nuclei	Adipose
34	chr16:70335200-70348800	Weak transcription	Brain Angular Gyrus	brain
35	chr16:70335200-70349800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr16:70335200-70349800	Weak transcription	Colon Smooth Muscle	Colon
37	chr16:70335200-70349800	Weak transcription	Fetal Intestine Large	intestine
38	chr16:70335400-70347200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:70335400-70349200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr16:70335400-70349400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr16:70335400-70349400	Weak transcription	Brain Anterior Caudate	brain
42	chr16:70335400-70349800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:70335400-70349800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:70335400-70349800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr16:70335400-70349800	Weak transcription	HSMM	muscle
46	chr16:70335400-70350400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr16:70335600-70349400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr16:70335600-70349400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr16:70335600-70349800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr16:70335600-70349800	Weak transcription	Fetal Muscle Leg	muscle

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