Variant report

Variant	rs9940830
Chromosome Location	chr16:71507490-71507491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71494305..71497217-chr16:71506576..71508496,2	MCF-7	breast:
2	chr16:71506966..71508827-chr16:71510994..71513448,2	MCF-7	breast:
3	chr16:71507450..71511299-chr16:71511883..71513820,5	K562	blood:
4	chr16:71501449..71503485-chr16:71506644..71509669,3	MCF-7	breast:
5	chr16:71494025..71497980-chr16:71506815..71510228,4	K562	blood:
6	chr16:71498533..71500835-chr16:71506756..71508900,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167377	Chromatin interaction
ENSG00000247324	Chromatin interaction
ENSG00000157429	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13331092	0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13335958	1.00[AMR][1000 genomes]
rs13338592	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338643	0.83[AMR][1000 genomes]
rs13339359	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16973227	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs28436693	1.00[AMR][1000 genomes]
rs28448676	1.00[AMR][1000 genomes]
rs59475931	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73584836	1.00[AMR][1000 genomes]
rs73589850	1.00[AMR][1000 genomes]
rs8053156	0.83[AMR][1000 genomes]
rs8060811	1.00[AMR][1000 genomes]
rs9921203	0.83[AMR][1000 genomes]
rs9926624	0.83[AMR][1000 genomes]
rs9927547	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs9927810	0.93[YRI][hapmap];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71496400-71509400	Weak transcription	Small Intestine	intestine
2	chr16:71496600-71507600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:71496600-71508400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr16:71496600-71508400	Weak transcription	Placenta	Placenta
5	chr16:71496600-71509200	Weak transcription	Fetal Intestine Large	intestine
6	chr16:71496600-71509400	Weak transcription	Colonic Mucosa	Colon
7	chr16:71496600-71509400	Weak transcription	Esophagus	oesophagus
8	chr16:71496600-71509400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:71496600-71511400	Weak transcription	Pancreas	Pancrea
10	chr16:71496800-71507600	Weak transcription	Ovary	ovary
11	chr16:71496800-71507800	Weak transcription	Fetal Muscle Leg	muscle
12	chr16:71496800-71507800	Weak transcription	Left Ventricle	heart
13	chr16:71496800-71507800	Weak transcription	HSMM	muscle
14	chr16:71496800-71507800	Weak transcription	HSMMtube	muscle
15	chr16:71496800-71508400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:71496800-71508600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:71496800-71508600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:71496800-71508600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:71496800-71508800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr16:71496800-71508800	Weak transcription	Primary T cells from cord blood	blood
21	chr16:71496800-71508800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:71496800-71508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:71496800-71508800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr16:71496800-71509000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:71496800-71509200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:71496800-71509400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:71496800-71509400	Weak transcription	Psoas Muscle	Psoas
28	chr16:71496800-71512000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr16:71496800-71512200	Weak transcription	Fetal Intestine Small	intestine
30	chr16:71497000-71507800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:71497000-71507800	Weak transcription	NHLF	lung
32	chr16:71497000-71508000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:71497000-71508400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:71497000-71508600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:71497000-71511800	Weak transcription	Brain Substantia Nigra	brain
36	chr16:71497000-71517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr16:71497000-71517400	Weak transcription	Fetal Heart	heart
38	chr16:71497000-71517600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr16:71497200-71507800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:71497200-71508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:71497200-71508600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:71497200-71508600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:71497200-71509000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:71497200-71509200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr16:71497200-71509400	Weak transcription	Colon Smooth Muscle	Colon
46	chr16:71497200-71509400	Weak transcription	Lung	lung
47	chr16:71497400-71508800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:71497400-71509000	Weak transcription	Right Ventricle	heart
49	chr16:71497400-71509200	Weak transcription	Primary B cells from cord blood	blood
50	chr16:71497400-71509200	Weak transcription	Brain Angular Gyrus	brain

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