Variant report

Variant	rs17104702
Chromosome Location	chr14:68281700-68281701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68268943..68273622-chr14:68274476..68281746,8	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13353140	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104818	1.00[AMR][1000 genomes]
rs28451245	1.00[AMR][1000 genomes]
rs28479359	1.00[AMR][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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68265800-68282200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:68271400-68282000	Weak transcription	Stomach Mucosa	stomach
4	chr14:68271800-68282200	Weak transcription	K562	blood
5	chr14:68272400-68282200	Weak transcription	Small Intestine	intestine
6	chr14:68274600-68282200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68274600-68282200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:68274600-68282400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:68275000-68282600	Weak transcription	Aorta	Aorta
10	chr14:68275400-68282200	Weak transcription	Thymus	Thymus
11	chr14:68275400-68282400	Weak transcription	Gastric	stomach
12	chr14:68275600-68282200	Weak transcription	Psoas Muscle	Psoas
13	chr14:68275600-68282400	Weak transcription	Esophagus	oesophagus
14	chr14:68276000-68281800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:68276000-68282000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:68276000-68282000	Weak transcription	Spleen	Spleen
17	chr14:68276000-68282200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:68277000-68282400	Weak transcription	Right Ventricle	heart
19	chr14:68277600-68282000	Weak transcription	Fetal Stomach	stomach
20	chr14:68277600-68282000	Weak transcription	HSMMtube	muscle
21	chr14:68277800-68282200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:68277800-68282200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:68277800-68282200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:68277800-68282400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:68277800-68282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:68277800-68282400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:68277800-68282400	Weak transcription	Left Ventricle	heart
28	chr14:68277800-68282400	Weak transcription	Lung	lung
29	chr14:68277800-68282400	Weak transcription	Ovary	ovary
30	chr14:68278000-68281800	Weak transcription	Fetal Brain Male	brain
31	chr14:68278000-68282000	Weak transcription	Brain Substantia Nigra	brain
32	chr14:68278000-68282200	Weak transcription	Colonic Mucosa	Colon
33	chr14:68278200-68282000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:68279000-68282400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr14:68279200-68282000	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:68280200-68281800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:68280200-68282200	Weak transcription	Fetal Thymus	thymus
38	chr14:68280400-68282200	Enhancers	Primary B cells from cord blood	blood
39	chr14:68280600-68281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:68280600-68281800	Weak transcription	Brain Anterior Caudate	brain
41	chr14:68280600-68282000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr14:68280800-68281800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:68280800-68282000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:68280800-68282000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr14:68280800-68282000	Weak transcription	Placenta	Placenta
46	chr14:68280800-68282400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:68281000-68281800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:68281000-68281800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:68281000-68282000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:68281000-68282000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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