Variant report

Variant	rs17105229
Chromosome Location	chr14:68703573-68703574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr14:68703384-68703612	HepG2	liver:	n/a	n/a
2	TCF7L2	chr14:68703351-68703752	PANC-1	pancreas:	n/a	n/a
3	KAP1	chr14:68703265-68704045	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68700078..68701970-chr14:68703317..68705576,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL108P	TF binding region

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]
rs17105239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105243	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]
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	0.93[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:61 , 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	chr14:68699000-68703600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:68699200-68708600	Weak transcription	Lung	lung
10	chr14:68699600-68705200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:68699800-68708400	Weak transcription	Psoas Muscle	Psoas
12	chr14:68700000-68706800	Weak transcription	Brain Anterior Caudate	brain
13	chr14:68700000-68707600	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:68700400-68703600	Weak transcription	NHDF-Ad	bronchial
15	chr14:68700400-68705400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:68700400-68705800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:68700400-68706600	Weak transcription	HUVEC	blood vessel
18	chr14:68700400-68710200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:68700800-68705400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:68700800-68706400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:68700800-68708600	Weak transcription	HSMMtube	muscle
22	chr14:68701200-68705400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:68701200-68710200	Weak transcription	Hela-S3	cervix
24	chr14:68701400-68703800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:68701400-68705800	Weak transcription	Pancreas	Pancrea
26	chr14:68701400-68709800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:68702600-68707400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:68702800-68704400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:68702800-68704400	Enhancers	Liver	Liver
30	chr14:68702800-68704600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:68703000-68703600	Enhancers	Small Intestine	intestine
32	chr14:68703000-68703600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr14:68703000-68703800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr14:68703000-68704000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:68703000-68704000	Enhancers	Colonic Mucosa	Colon
36	chr14:68703000-68704000	Enhancers	Fetal Stomach	stomach
37	chr14:68703000-68704200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:68703000-68704200	Enhancers	HepG2	liver
39	chr14:68703000-68704400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:68703000-68704400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr14:68703000-68704800	Enhancers	Rectal Smooth Muscle	rectum
42	chr14:68703000-68705600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:68703000-68714000	Enhancers	Fetal Muscle Leg	muscle
44	chr14:68703000-68718800	Enhancers	Fetal Intestine Large	intestine
45	chr14:68703200-68704000	Enhancers	Fetal Heart	heart
46	chr14:68703200-68704000	Enhancers	Stomach Mucosa	stomach
47	chr14:68703200-68704200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:68703200-68704200	Enhancers	A549	lung
49	chr14:68703200-68704400	Enhancers	Fetal Kidney	kidney
50	chr14:68703200-68707000	Enhancers	Duodenum Mucosa	Duodenum

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