Variant report

Variant	rs11621116
Chromosome Location	chr14:81740763-81740764
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81738210..81741062-chr14:81743427..81745405,2	K562	blood:
2	chr14:81684973..81687245-chr14:81740036..81742167,2	K562	blood:
3	chr14:81685475..81687866-chr14:81737808..81743096,5	MCF-7	breast:
4	chr14:81740539..81742238-chr14:81855597..81857728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10133562	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10149681	0.86[CHB][hapmap]
rs10483975	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625861	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs12147118	0.80[CHB][hapmap]
rs17111601	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1864169	0.86[CHB][hapmap]
rs1957546	0.91[CHB][hapmap]
rs2241621	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2241622	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574634	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142641	0.83[CEU][hapmap];0.86[CHB][hapmap]
rs7148100	0.86[CHB][hapmap]
rs7149103	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7149294	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7149672	0.81[CHB][hapmap]
rs7160599	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161073	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72695758	0.80[ASN][1000 genomes]
rs8007595	0.96[ASN][1000 genomes]
rs8007841	0.85[CHB][hapmap]
rs8009696	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8009888	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8014406	0.86[CHB][hapmap]
rs8016982	0.81[CHB][hapmap]
rs9806020	0.91[CHB][hapmap]
rs9806027	0.85[CHB][hapmap]
rs9944085	0.82[CHB][hapmap]

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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81721200-81742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:81722600-81741800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:81724600-81741800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:81724600-81746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:81725000-81743600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:81727800-81746200	Weak transcription	NHDF-Ad	bronchial
7	chr14:81729400-81752600	Weak transcription	Stomach Mucosa	stomach
8	chr14:81730600-81743000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:81730600-81744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:81730800-81743600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:81732400-81743600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:81733200-81753000	Weak transcription	Hela-S3	cervix
13	chr14:81734600-81741400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:81734600-81742400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:81734800-81743000	Weak transcription	Placenta	Placenta
16	chr14:81734800-81743400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:81734800-81744000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:81735600-81760200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:81735800-81743000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:81735800-81746400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:81736000-81741800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:81736000-81743400	Weak transcription	Fetal Intestine Large	intestine
23	chr14:81736000-81746000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:81736200-81742000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:81736400-81746600	Weak transcription	Liver	Liver
26	chr14:81736600-81742400	Weak transcription	Fetal Stomach	stomach
27	chr14:81736800-81740800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:81736800-81741200	Weak transcription	Brain Substantia Nigra	brain
29	chr14:81737000-81744200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:81737200-81740800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:81737200-81740800	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:81737200-81741800	Weak transcription	K562	blood
33	chr14:81737200-81742800	Weak transcription	Fetal Kidney	kidney
34	chr14:81737600-81748000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:81738000-81741800	Weak transcription	Psoas Muscle	Psoas
36	chr14:81738600-81743400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr14:81739200-81743800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:81739600-81742200	Enhancers	Brain Anterior Caudate	brain
39	chr14:81739600-81743800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:81739800-81740800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:81739800-81740800	Enhancers	Ovary	ovary
42	chr14:81739800-81741200	Genic enhancers	Fetal Muscle Leg	muscle
43	chr14:81739800-81741800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:81739800-81742400	Strong transcription	Fetal Intestine Small	intestine
45	chr14:81740000-81741600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:81740000-81742600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr14:81740200-81740800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:81740200-81740800	Strong transcription	HMEC	breast
49	chr14:81740200-81741000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:81740200-81741800	Weak transcription	Brain Angular Gyrus	brain

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