Variant report

Variant	rs8013323
Chromosome Location	chr14:68705153-68705154
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr14:68705148-68705578	T-47D	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68704238..68708340-chr14:69251416..69255393,5	MCF-7	breast:
2	chr14:68704001..68708075-chr14:69257044..69261841,5	MCF-7	breast:
3	chr14:68704282..68707165-chr14:68925446..68927896,2	MCF-7	breast:
4	chr14:68699323..68701443-chr14:68703625..68705196,2	MCF-7	breast:
5	chr14:68700078..68701970-chr14:68703317..68705576,2	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL108P	TF binding region
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]
rs17105191	0.81[AFR][1000 genomes]
rs17105200	0.81[AFR][1000 genomes]
rs17105229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4584756	0.86[AFR][1000 genomes]
rs7145107	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7145443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7156336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7161572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8012217	1.00[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	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68685000-68705200	Weak transcription	K562	blood
2	chr14:68690800-68712800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:68691000-68705800	Weak transcription	Primary T cells from cord blood	blood
4	chr14:68693000-68705800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:68697400-68711400	Weak transcription	Spleen	Spleen
6	chr14:68697400-68712400	Weak transcription	Aorta	Aorta
7	chr14:68697600-68714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:68699200-68708600	Weak transcription	Lung	lung
9	chr14:68699600-68705200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:68699800-68708400	Weak transcription	Psoas Muscle	Psoas
11	chr14:68700000-68706800	Weak transcription	Brain Anterior Caudate	brain
12	chr14:68700000-68707600	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:68700400-68705400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:68700400-68705800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:68700400-68706600	Weak transcription	HUVEC	blood vessel
16	chr14:68700400-68710200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:68700800-68705400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:68700800-68706400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:68700800-68708600	Weak transcription	HSMMtube	muscle
20	chr14:68701200-68705400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:68701200-68710200	Weak transcription	Hela-S3	cervix
22	chr14:68701400-68705800	Weak transcription	Pancreas	Pancrea
23	chr14:68701400-68709800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:68702600-68707400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:68703000-68705600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:68703000-68714000	Enhancers	Fetal Muscle Leg	muscle
27	chr14:68703000-68718800	Enhancers	Fetal Intestine Large	intestine
28	chr14:68703200-68707000	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:68703200-68711000	Enhancers	Colon Smooth Muscle	Colon
30	chr14:68703200-68718800	Enhancers	Fetal Intestine Small	intestine
31	chr14:68703400-68707200	Weak transcription	Ovary	ovary
32	chr14:68703400-68707800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:68703400-68710200	Weak transcription	Brain Angular Gyrus	brain
34	chr14:68703600-68705200	Weak transcription	Small Intestine	intestine
35	chr14:68703800-68705200	Weak transcription	Thymus	Thymus
36	chr14:68703800-68706000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr14:68703800-68707600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:68703800-68708400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:68704000-68705200	Weak transcription	Stomach Mucosa	stomach
40	chr14:68704000-68705800	Weak transcription	Colonic Mucosa	Colon
41	chr14:68704000-68705800	Weak transcription	Fetal Heart	heart
42	chr14:68704000-68706000	Weak transcription	Fetal Stomach	stomach
43	chr14:68704000-68710400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:68704000-68710600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:68704200-68706200	Weak transcription	A549	lung
46	chr14:68704200-68706800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:68704200-68707200	Weak transcription	HepG2	liver
48	chr14:68704200-68710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:68704400-68705200	Weak transcription	Fetal Kidney	kidney
50	chr14:68704400-68705800	Weak transcription	GM12878-XiMat	blood

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