Variant report

Variant	rs2145633
Chromosome Location	chr14:97325735-97325736
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	chr14:97319882..97321804-chr14:97324094..97326598,3	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	1.00[JPT][hapmap];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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094552	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094594	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957136	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145634	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657801	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696631	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116530	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165690	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225078	0.93[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016074	0.98[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[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97291000-97326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:97291200-97326200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:97293400-97326400	Weak transcription	Fetal Stomach	stomach
4	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
5	chr14:97297400-97328000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:97298800-97348800	Strong transcription	Dnd41	blood
8	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:97299000-97328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:97299200-97329600	Weak transcription	Osteobl	bone
11	chr14:97299400-97329600	Weak transcription	NHEK	skin
12	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:97300600-97329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:97300600-97332000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:97303400-97326600	Weak transcription	NHLF	lung
16	chr14:97303400-97371600	Weak transcription	Ovary	ovary
17	chr14:97303600-97337400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:97306000-97330200	Weak transcription	Fetal Brain Female	brain
19	chr14:97308200-97348800	Weak transcription	Fetal Intestine Small	intestine
20	chr14:97309600-97344400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:97309800-97326600	Weak transcription	Placenta	Placenta
22	chr14:97311600-97325800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:97312800-97333200	Weak transcription	HSMMtube	muscle
24	chr14:97313600-97328000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:97314000-97329200	Weak transcription	Brain Germinal Matrix	brain
26	chr14:97314200-97328600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:97314400-97327800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:97314400-97329400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:97314400-97329800	Weak transcription	NH-A	brain
30	chr14:97314800-97327600	Weak transcription	Aorta	Aorta
31	chr14:97314800-97328000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:97314800-97328800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:97314800-97333400	Weak transcription	Esophagus	oesophagus
34	chr14:97314800-97344000	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:97314800-97347600	Weak transcription	Lung	lung
36	chr14:97314800-97355000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:97315600-97343800	Weak transcription	Left Ventricle	heart
38	chr14:97315600-97346600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:97315600-97350400	Weak transcription	NHDF-Ad	bronchial
40	chr14:97316000-97344400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:97319000-97327600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:97319400-97326400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:97319600-97327400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:97319800-97327400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:97319800-97327400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:97320000-97325800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr14:97321400-97326400	Strong transcription	K562	blood
48	chr14:97321400-97327600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:97321600-97326400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr14:97321800-97328000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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