Variant report

Variant	rs17111627
Chromosome Location	chr14:81732227-81732228
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81730236..81733765-chr14:81735324..81738162,3	K562	blood:
2	chr14:81684377..81689943-chr14:81728055..81734631,10	K562	blood:
3	chr14:81719962..81722776-chr14:81729906..81732406,2	MCF-7	breast:
4	chr14:81727889..81730386-chr14:81731826..81734332,3	MCF-7	breast:
5	chr14:81684348..81690583-chr14:81729061..81738251,32	MCF-7	breast:
6	chr14:81683224..81690294-chr14:81730621..81737433,21	MCF-7	breast:
7	chr14:81684594..81689943-chr14:81730721..81738333,8	K562	blood:
8	chr14:81728442..81730131-chr14:81732083..81734711,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10137342	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs10145323	1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs12437268	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs17094177	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17111607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17111611	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17111651	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17111691	1.00[JPT][hapmap]
rs2033255	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs36017951	0.81[ASN][1000 genomes]
rs3815952	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs728458	1.00[YRI][hapmap];0.83[AFR][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	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81714200-81738600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:81714400-81734000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:81719800-81735600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:81721200-81735600	Weak transcription	Brain Anterior Caudate	brain
5	chr14:81721200-81742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:81721400-81739800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:81721600-81733400	Weak transcription	K562	blood
8	chr14:81721600-81739800	Weak transcription	Ovary	ovary
9	chr14:81722600-81741800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:81723000-81734200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:81723400-81734000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:81723400-81734200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:81724400-81735400	Weak transcription	Fetal Intestine Large	intestine
14	chr14:81724600-81736400	Weak transcription	Fetal Intestine Small	intestine
15	chr14:81724600-81741800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:81724600-81746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:81724800-81736400	Weak transcription	Spleen	Spleen
18	chr14:81725000-81739800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:81725000-81740000	Weak transcription	Esophagus	oesophagus
20	chr14:81725000-81743600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:81725600-81734000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:81725600-81734400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:81725800-81734200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:81725800-81734200	Strong transcription	NHEK	skin
25	chr14:81726400-81732600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:81726400-81733800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:81726400-81734200	Weak transcription	Placenta	Placenta
28	chr14:81726800-81736600	Weak transcription	Brain Substantia Nigra	brain
29	chr14:81727600-81736800	Weak transcription	Psoas Muscle	Psoas
30	chr14:81727800-81734200	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:81727800-81746200	Weak transcription	NHDF-Ad	bronchial
32	chr14:81728000-81736600	Weak transcription	Fetal Brain Male	brain
33	chr14:81728200-81734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:81729000-81735800	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:81729400-81752600	Weak transcription	Stomach Mucosa	stomach
36	chr14:81730600-81734000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:81730600-81734200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:81730600-81734200	Weak transcription	HMEC	breast
39	chr14:81730600-81743000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:81730600-81744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:81730800-81733000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:81730800-81733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:81730800-81735600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:81730800-81740000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:81730800-81743600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:81731200-81733200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:81731200-81734000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:81731600-81739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:81731800-81733000	Enhancers	Fetal Thymus	thymus
50	chr14:81731800-81733800	Enhancers	Dnd41	blood

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