Variant report

Variant	rs749350
Chromosome Location	chr14:68827317-68827318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68820537..68822571-chr14:68826087..68829022,2	MCF-7	breast:
2	chr14:68716909..68718440-chr14:68825908..68828082,2	MCF-7	breast:
3	chr14:68715317..68717585-chr14:68825893..68828768,2	MCF-7	breast:
4	chr14:68825944..68827460-chr14:68863306..68865139,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17105494	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17105501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17783653	1.00[CEU][hapmap]
rs7149619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7359118	1.00[CHB][hapmap]
rs749352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68811000-68829800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:68824400-68828600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:68824400-68829400	Enhancers	Primary T cells from cord blood	blood
4	chr14:68824600-68828000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:68824800-68827400	Enhancers	Fetal Lung	lung
6	chr14:68825000-68827400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:68825000-68827800	Enhancers	Brain Anterior Caudate	brain
8	chr14:68825200-68827600	Enhancers	Colon Smooth Muscle	Colon
9	chr14:68825400-68827800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:68825600-68827400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:68825600-68827400	Enhancers	Stomach Smooth Muscle	stomach
12	chr14:68825600-68827600	Enhancers	Aorta	Aorta
13	chr14:68825600-68827800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:68825600-68827800	Enhancers	Brain Hippocampus Middle	brain
15	chr14:68825600-68828000	Enhancers	Primary B cells from cord blood	blood
16	chr14:68825600-68828000	Enhancers	Fetal Intestine Large	intestine
17	chr14:68825600-68828000	Enhancers	Fetal Muscle Leg	muscle
18	chr14:68825600-68828000	Enhancers	Fetal Thymus	thymus
19	chr14:68825600-68828200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:68825600-68828400	Enhancers	Brain Substantia Nigra	brain
21	chr14:68825600-68832000	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:68825800-68827400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:68825800-68827400	Enhancers	Brain Cingulate Gyrus	brain
24	chr14:68825800-68827600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr14:68825800-68827600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr14:68825800-68827600	Enhancers	Right Atrium	heart
27	chr14:68825800-68827600	Enhancers	HSMMtube	muscle
28	chr14:68825800-68828000	Enhancers	HepG2	liver
29	chr14:68825800-68828200	Enhancers	Fetal Intestine Small	intestine
30	chr14:68825800-68828400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:68825800-68828400	Enhancers	Fetal Heart	heart
32	chr14:68825800-68828400	Enhancers	Hela-S3	cervix
33	chr14:68825800-68828600	Enhancers	Ovary	ovary
34	chr14:68825800-68830200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:68826000-68827800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr14:68826000-68827800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr14:68826200-68827400	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:68826200-68827400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:68826200-68827800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:68826200-68828000	Enhancers	HSMM	muscle
41	chr14:68826200-68828400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:68826200-68828400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:68826200-68828600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr14:68826200-68828600	Enhancers	Pancreas	Pancrea
45	chr14:68826200-68829600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:68826200-68835400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr14:68826400-68827400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:68826400-68827600	Enhancers	Stomach Mucosa	stomach
49	chr14:68826400-68828200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:68826400-68828400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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