Variant report

Variant	rs11866980
Chromosome Location	chr16:71810200-71810201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71809511..71811368-chr16:71813247..71816023,2	K562	blood:
2	chr16:71810112..71812013-chr16:71817233..71818739,2	MCF-7	breast:
3	chr16:71802433..71805430-chr16:71808477..71810923,2	K562	blood:
4	chr16:71809920..71813337-chr16:71827529..71832113,4	K562	blood:

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11860038	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs11860518	1.00[AFR][1000 genomes]
rs11863079	1.00[AFR][1000 genomes]
rs11864242	1.00[AFR][1000 genomes]
rs11865243	1.00[AFR][1000 genomes]
rs11865253	1.00[AFR][1000 genomes]
rs11865412	1.00[AFR][1000 genomes]
rs11865516	1.00[AFR][1000 genomes]
rs11866326	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs11866483	0.86[AFR][1000 genomes]
rs13334187	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs34287361	1.00[CHD][hapmap]

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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
5	esv1815957	chr16:71790812-71816899	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:71770800-71810600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:71770800-71813800	Strong transcription	Liver	Liver
7	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
8	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
11	chr16:71784000-71811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:71792800-71811000	Weak transcription	Small Intestine	intestine
13	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
14	chr16:71797000-71823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:71797200-71811200	Weak transcription	Pancreas	Pancrea
16	chr16:71797400-71812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:71798400-71822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr16:71799000-71810200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr16:71800400-71810600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:71801000-71815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:71801400-71814800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:71801600-71811200	Weak transcription	NHEK	skin
23	chr16:71801800-71811400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:71802000-71821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr16:71802800-71810200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr16:71803000-71810400	Strong transcription	HSMM	muscle
27	chr16:71803000-71812200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr16:71803000-71812400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:71803000-71823800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr16:71805000-71823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr16:71805200-71811200	Weak transcription	Fetal Brain Female	brain
32	chr16:71805200-71811400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:71805200-71821200	Weak transcription	K562	blood
34	chr16:71805400-71811200	Weak transcription	Brain Germinal Matrix	brain
35	chr16:71805400-71817400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:71805800-71811200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr16:71806200-71811800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr16:71806600-71810200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:71807000-71810400	Strong transcription	Osteobl	bone
40	chr16:71807000-71815600	Weak transcription	Stomach Mucosa	stomach
41	chr16:71807200-71815600	Weak transcription	Fetal Kidney	kidney
42	chr16:71807400-71821400	Weak transcription	Hela-S3	cervix
43	chr16:71807600-71811400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:71807600-71811400	Weak transcription	A549	lung
45	chr16:71807600-71814600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr16:71807600-71815000	Weak transcription	NH-A	brain
47	chr16:71807600-71815200	Weak transcription	NHDF-Ad	bronchial
48	chr16:71807600-71816600	Weak transcription	Brain Angular Gyrus	brain
49	chr16:71807600-71816600	Weak transcription	Brain Hippocampus Middle	brain
50	chr16:71807600-71817400	Weak transcription	Rectal Smooth Muscle	rectum

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