Variant report

Variant	rs34954584
Chromosome Location	chr14:68785994-68785995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68785289..68787914-chr14:68794616..68796810,2	MCF-7	breast:
2	chr14:68780053..68783050-chr14:68784750..68787033,2	MCF-7	breast:
3	chr14:68783910..68786453-chr14:69257725..69259956,2	MCF-7	breast:
4	chr14:68783421..68786045-chr14:68786498..68788338,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34018188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73274125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68772000-68788400	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:68772600-68788000	Weak transcription	Lung	lung
4	chr14:68776200-68789400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:68777000-68792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:68777000-68793400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:68779000-68787400	Weak transcription	Primary T cells from cord blood	blood
8	chr14:68780800-68787600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:68781000-68786200	Weak transcription	Fetal Stomach	stomach
10	chr14:68781200-68786800	Weak transcription	Spleen	Spleen
11	chr14:68781200-68789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:68781600-68786200	Weak transcription	Brain Substantia Nigra	brain
13	chr14:68781600-68787600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:68782000-68788200	Enhancers	GM12878-XiMat	blood
15	chr14:68782200-68786600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:68782200-68786600	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:68783400-68787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:68783400-68793600	Weak transcription	Pancreas	Pancrea
19	chr14:68784200-68786400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:68784400-68789200	Weak transcription	HepG2	liver
21	chr14:68784800-68786000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:68784800-68787600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:68784800-68788200	Enhancers	Ovary	ovary
24	chr14:68785000-68787600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:68785200-68786000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:68785200-68786200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:68785200-68786400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:68785200-68788400	Enhancers	Fetal Lung	lung
29	chr14:68785400-68786000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr14:68785400-68786000	Enhancers	Primary B cells from cord blood	blood
31	chr14:68785400-68786000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:68785400-68786000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr14:68785400-68786600	Enhancers	Aorta	Aorta
34	chr14:68785400-68786600	Enhancers	Fetal Kidney	kidney
35	chr14:68785400-68786800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:68785600-68786000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:68785600-68789400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:68785600-68793600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:68785600-68812400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr14:68785800-68786000	Enhancers	Psoas Muscle	Psoas
41	chr14:68785800-68786600	Enhancers	Rectal Smooth Muscle	rectum
42	chr14:68785800-68786800	Enhancers	Brain Anterior Caudate	brain
43	chr14:68785800-68787000	Enhancers	Colon Smooth Muscle	Colon
44	chr14:68785800-68787200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:68785800-68787600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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