Variant report

Variant	rs17105243
Chromosome Location	chr14:68710068-68710069
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68639908..68642790-chr14:68708877..68711719,2	MCF-7	breast:
2	chr14:68655074..68665772-chr14:68705598..68717948,30	MCF-7	breast:
3	chr14:68407127..68413734-chr14:68709753..68718255,16	MCF-7	breast:
4	chr14:68661354..68663465-chr14:68710043..68713099,3	MCF-7	breast:
5	chr14:68604504..68610375-chr14:68709920..68717829,10	MCF-7	breast:
6	chr14:68708487..68726231-chr14:69250578..69263645,103	MCF-7	breast:
7	chr14:68709546..68712212-chr14:68720910..68723399,2	MCF-7	breast:
8	chr14:68708247..68712239-chr14:68715393..68718268,4	MCF-7	breast:
9	chr14:68707314..68710614-chr14:69260010..69263614,5	MCF-7	breast:
10	chr14:68709605..68712034-chr14:68773176..68774923,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17105191	0.81[AFR][1000 genomes]
rs17105200	0.81[AFR][1000 genomes]
rs17105229	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105244	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105601	1.00[MEX][hapmap]
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]
rs7152570	0.87[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap]
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]
rs7359118	1.00[MEX][hapmap]
rs8012217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8013323	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68690800-68712800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68697400-68711400	Weak transcription	Spleen	Spleen
3	chr14:68697400-68712400	Weak transcription	Aorta	Aorta
4	chr14:68697600-68714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:68700400-68710200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:68701200-68710200	Weak transcription	Hela-S3	cervix
7	chr14:68703000-68714000	Enhancers	Fetal Muscle Leg	muscle
8	chr14:68703000-68718800	Enhancers	Fetal Intestine Large	intestine
9	chr14:68703200-68711000	Enhancers	Colon Smooth Muscle	Colon
10	chr14:68703200-68718800	Enhancers	Fetal Intestine Small	intestine
11	chr14:68703400-68710200	Weak transcription	Brain Angular Gyrus	brain
12	chr14:68704000-68710400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:68704000-68710600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:68704200-68710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:68704400-68710200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:68704400-68714400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:68706800-68712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:68707000-68712400	Weak transcription	Placenta	Placenta
19	chr14:68707000-68713400	Weak transcription	GM12878-XiMat	blood
20	chr14:68707200-68710200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:68707200-68724000	Enhancers	Fetal Lung	lung
22	chr14:68707400-68710200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:68707400-68710200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:68707400-68710200	Weak transcription	A549	lung
25	chr14:68707400-68710200	Weak transcription	HUVEC	blood vessel
26	chr14:68707400-68710400	Weak transcription	Brain Anterior Caudate	brain
27	chr14:68707400-68711400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:68707400-68715800	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:68707600-68710200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:68707600-68710200	Weak transcription	Liver	Liver
31	chr14:68707600-68710400	Weak transcription	Small Intestine	intestine
32	chr14:68707600-68712400	Weak transcription	HepG2	liver
33	chr14:68707600-68720400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:68707800-68710200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:68707800-68710200	Weak transcription	Fetal Kidney	kidney
36	chr14:68707800-68710400	Weak transcription	Brain Substantia Nigra	brain
37	chr14:68707800-68710600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:68707800-68710800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:68707800-68710800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:68707800-68710800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:68707800-68712400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:68707800-68712400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:68707800-68717800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr14:68707800-68718000	Enhancers	Stomach Mucosa	stomach
45	chr14:68708000-68710400	Weak transcription	Fetal Stomach	stomach
46	chr14:68708000-68710400	Weak transcription	K562	blood
47	chr14:68708000-68711200	Weak transcription	Colonic Mucosa	Colon
48	chr14:68708000-68711200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:68708000-68711400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr14:68708200-68715400	Enhancers	Skeletal Muscle Female	skeletal muscle

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