Variant report

Variant	rs2094326
Chromosome Location	chr14:68647631-68647632
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68602556..68605498-chr14:68644856..68647677,2	MCF-7	breast:
2	chr14:68606522..68609146-chr14:68646292..68648730,3	MCF-7	breast:
3	chr14:68635724..68652229-chr14:68652309..68662207,28	MCF-7	breast:
4	chr14:68645595..68647728-chr14:69282416..69284911,2	MCF-7	breast:
5	chr14:68631061..68632736-chr14:68646338..68648458,2	MCF-7	breast:
6	chr14:68644898..68647865-chr14:68656989..68659986,2	K562	blood:
7	chr14:68646641..68650349-chr14:69255311..69259925,5	MCF-7	breast:
8	chr14:68637477..68641965-chr14:68646902..68653784,8	MCF-7	breast:
9	chr14:68604553..68606506-chr14:68645240..68647824,2	MCF-7	breast:
10	chr14:68642683..68644188-chr14:68647557..68649281,2	MCF-7	breast:
11	chr14:68647380..68649631-chr14:68713647..68715279,2	MCF-7	breast:
12	chr14:68405746..68408665-chr14:68647500..68650644,3	MCF-7	breast:
13	chr14:68641980..68649731-chr14:69257226..69262968,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11846084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847621	1.00[AMR][1000 genomes]
rs11850654	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104798	1.00[AMR][1000 genomes]
rs17104840	1.00[AMR][1000 genomes]
rs17105058	0.84[ASW][hapmap]
rs17105070	1.00[AMR][1000 genomes]
rs17105081	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105085	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105102	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34116400	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34227845	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1048794	chr14:68614152-68649231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68635400-68648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:68636200-68648000	Weak transcription	HSMM	muscle
3	chr14:68640400-68648000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:68640600-68648200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:68641000-68648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:68641000-68648200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:68641400-68648400	Weak transcription	Liver	Liver
8	chr14:68641400-68658000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:68642400-68659800	Weak transcription	Pancreas	Pancrea
10	chr14:68644800-68648000	Weak transcription	Small Intestine	intestine
11	chr14:68644800-68648400	Weak transcription	Esophagus	oesophagus
12	chr14:68644800-68648400	Weak transcription	Ovary	ovary
13	chr14:68645000-68651000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:68645000-68655600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:68645400-68647800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:68645400-68647800	Weak transcription	NHDF-Ad	bronchial
17	chr14:68645400-68648000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:68645600-68647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:68645600-68648000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:68645600-68648000	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:68645600-68648000	Weak transcription	Fetal Thymus	thymus
22	chr14:68645600-68648000	Weak transcription	NH-A	brain
23	chr14:68645600-68648200	Weak transcription	NHEK	skin
24	chr14:68645600-68648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:68645600-68648600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:68645800-68648000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:68645800-68648000	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:68645800-68648400	Weak transcription	Fetal Lung	lung
29	chr14:68646000-68647800	Weak transcription	A549	lung
30	chr14:68646000-68647800	Weak transcription	Osteobl	bone
31	chr14:68646000-68648000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:68646000-68648000	Weak transcription	Fetal Intestine Small	intestine
33	chr14:68646000-68648200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:68646000-68648600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:68646000-68650800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:68646200-68647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:68646200-68648400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:68646600-68648200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:68646600-68648200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:68646600-68651000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:68646600-68655200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:68647000-68648800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:68647000-68676600	Weak transcription	Primary B cells from cord blood	blood
44	chr14:68647200-68648000	Weak transcription	HSMMtube	muscle
45	chr14:68647400-68647800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr14:68647400-68648000	Enhancers	GM12878-XiMat	blood
47	chr14:68647400-68649000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr14:68647400-68649600	Enhancers	HepG2	liver
49	chr14:68647400-68649800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:68647400-68649800	Enhancers	Stomach Mucosa	stomach

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