Variant report

Variant	rs17094552
Chromosome Location	chr14:97329256-97329257
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97319813..97321735-chr14:97328609..97330442,2	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10131963	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147248	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10400776	0.89[ASN][1000 genomes]
rs17094510	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094594	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145633	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145634	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657801	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696631	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116530	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165690	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225078	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57566539	0.89[ASN][1000 genomes]
rs7148950	1.00[ASN][1000 genomes]
rs7149464	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73355679	0.92[EUR][1000 genomes]
rs7494297	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016074	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323953	0.97[EUR][1000 genomes]
rs9635293	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
2	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:97298800-97348800	Strong transcription	Dnd41	blood
4	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:97299200-97329600	Weak transcription	Osteobl	bone
6	chr14:97299400-97329600	Weak transcription	NHEK	skin
7	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:97300600-97329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:97300600-97332000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:97303400-97371600	Weak transcription	Ovary	ovary
11	chr14:97303600-97337400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:97306000-97330200	Weak transcription	Fetal Brain Female	brain
13	chr14:97308200-97348800	Weak transcription	Fetal Intestine Small	intestine
14	chr14:97309600-97344400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:97312800-97333200	Weak transcription	HSMMtube	muscle
16	chr14:97314400-97329400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:97314400-97329800	Weak transcription	NH-A	brain
18	chr14:97314800-97333400	Weak transcription	Esophagus	oesophagus
19	chr14:97314800-97344000	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:97314800-97347600	Weak transcription	Lung	lung
21	chr14:97314800-97355000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:97315600-97343800	Weak transcription	Left Ventricle	heart
23	chr14:97315600-97346600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr14:97315600-97350400	Weak transcription	NHDF-Ad	bronchial
25	chr14:97316000-97344400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:97321800-97329600	Weak transcription	Primary T cells from cord blood	blood
27	chr14:97321800-97331200	Strong transcription	Fetal Thymus	thymus
28	chr14:97321800-97343800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:97322000-97344600	Weak transcription	HUVEC	blood vessel
30	chr14:97322000-97348400	Weak transcription	HSMM	muscle
31	chr14:97322200-97354200	Weak transcription	Hela-S3	cervix
32	chr14:97323800-97354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:97324000-97331600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:97324000-97342400	Weak transcription	Fetal Intestine Large	intestine
35	chr14:97324000-97350800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:97324000-97352600	Weak transcription	HMEC	breast
37	chr14:97324200-97330200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:97324200-97331600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:97324200-97342000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:97324200-97342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:97324200-97342400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:97324200-97346400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:97324200-97348400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:97324200-97350600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr14:97324200-97354200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:97324400-97332400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:97324400-97346000	Weak transcription	HepG2	liver
48	chr14:97324800-97329600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:97324800-97346600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:97325000-97329600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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