Variant report

Variant	rs8007595
Chromosome Location	chr14:81735565-81735566
allele	G/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81734649..81736171-chr14:81929544..81931118,2	MCF-7	breast:
2	chr14:81735478..81736457-chr14:81930529..81931502,7	K562	blood:
3	chr14:81735073..81736371-chr14:81930476..81932013,7	MCF-7	breast:
4	chr14:81732900..81735880-chr14:81918109..81921076,5	MCF-7	breast:
5	chr14:81735295..81736524-chr14:81919204..81921189,25	MCF-7	breast:
6	chr14:81733496..81737456-chr14:81918664..81922273,4	MCF-7	breast:
7	chr14:81730236..81733765-chr14:81735324..81738162,3	K562	blood:
8	chr14:81735549..81736364-chr14:81919231..81920117,4	MCF-7	breast:
9	chr14:81684348..81690583-chr14:81729061..81738251,32	MCF-7	breast:
10	chr14:81683224..81690294-chr14:81730621..81737433,21	MCF-7	breast:
11	chr14:81686865..81688853-chr14:81734736..81736756,2	K562	blood:
12	chr14:81735524..81736431-chr14:81930547..81931469,5	MCF-7	breast:
13	chr14:81684594..81689943-chr14:81730721..81738333,8	K562	blood:
14	chr14:81733159..81735915-chr14:81931086..81932603,2	K562	blood:
15	chr14:81733049..81735838-chr14:81736167..81738052,2	MCF-7	breast:
16	chr14:81719518..81722167-chr14:81734780..81736753,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10133562	0.93[ASN][1000 genomes]
rs10483975	0.92[ASN][1000 genomes]
rs11621116	0.96[ASN][1000 genomes]
rs11625861	0.80[ASN][1000 genomes]
rs2241621	0.94[ASN][1000 genomes]
rs2241622	0.96[ASN][1000 genomes]
rs6574634	0.93[ASN][1000 genomes]
rs7149103	0.84[ASN][1000 genomes]
rs7149294	0.87[ASN][1000 genomes]
rs7160599	0.89[ASN][1000 genomes]
rs7161073	0.94[ASN][1000 genomes]
rs72695758	0.80[ASN][1000 genomes]
rs8009696	0.83[ASN][1000 genomes]
rs8009888	0.90[ASN][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:65 , 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	chr14:81719800-81735600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:81721200-81735600	Weak transcription	Brain Anterior Caudate	brain
4	chr14:81721200-81742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:81721400-81739800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:81721600-81739800	Weak transcription	Ovary	ovary
7	chr14:81722600-81741800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:81724600-81736400	Weak transcription	Fetal Intestine Small	intestine
9	chr14:81724600-81741800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:81724600-81746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:81724800-81736400	Weak transcription	Spleen	Spleen
12	chr14:81725000-81739800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:81725000-81740000	Weak transcription	Esophagus	oesophagus
14	chr14:81725000-81743600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:81726800-81736600	Weak transcription	Brain Substantia Nigra	brain
16	chr14:81727600-81736800	Weak transcription	Psoas Muscle	Psoas
17	chr14:81727800-81746200	Weak transcription	NHDF-Ad	bronchial
18	chr14:81728000-81736600	Weak transcription	Fetal Brain Male	brain
19	chr14:81729000-81735800	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:81729400-81752600	Weak transcription	Stomach Mucosa	stomach
21	chr14:81730600-81743000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:81730600-81744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:81730800-81735600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:81730800-81740000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:81730800-81743600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:81731600-81739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:81732000-81735800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:81732400-81743600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:81732600-81735600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:81733200-81753000	Weak transcription	Hela-S3	cervix
31	chr14:81733800-81735800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:81734000-81735600	Enhancers	Primary hematopoietic stem cells	blood
33	chr14:81734000-81735800	Genic enhancers	K562	blood
34	chr14:81734000-81736000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr14:81734000-81736000	Enhancers	Fetal Thymus	thymus
36	chr14:81734000-81736400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:81734000-81736400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr14:81734200-81735800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:81734400-81735600	Weak transcription	Fetal Kidney	kidney
40	chr14:81734400-81736200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:81734400-81736200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:81734600-81736000	Weak transcription	HSMM	muscle
43	chr14:81734600-81737200	Weak transcription	Colonic Mucosa	Colon
44	chr14:81734600-81741400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:81734600-81742400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:81734800-81736400	Weak transcription	Fetal Muscle Leg	muscle
47	chr14:81734800-81738800	Weak transcription	HSMMtube	muscle
48	chr14:81734800-81743000	Weak transcription	Placenta	Placenta
49	chr14:81734800-81743400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:81734800-81744000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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