Variant report

Variant	rs7147231
Chromosome Location	chr14:66212371-66212372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10083363	0.94[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148699	0.94[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873192	0.94[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622767	0.83[EUR][1000 genomes]
rs11848209	0.94[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956008	0.94[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956009	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2180299	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411349	0.94[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411354	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411813	1.00[ASN][1000 genomes]
rs2898816	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902408	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902413	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150233	0.94[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153497	1.00[ASN][1000 genomes]
rs7160390	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714491	1.00[ASN][1000 genomes]
rs72714498	1.00[ASN][1000 genomes]
rs8017258	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8021889	0.94[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671406	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66190400-66217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr14:66191800-66217800	Weak transcription	Small Intestine	intestine
3	chr14:66193000-66218800	Weak transcription	Colonic Mucosa	Colon
4	chr14:66199200-66213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:66200600-66215600	Weak transcription	Brain Substantia Nigra	brain
6	chr14:66201200-66216400	Weak transcription	Fetal Thymus	thymus
7	chr14:66201800-66219200	Weak transcription	Brain Anterior Caudate	brain
8	chr14:66202200-66215000	Weak transcription	Psoas Muscle	Psoas
9	chr14:66207400-66215400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:66209400-66212400	Weak transcription	NH-A	brain
11	chr14:66209400-66213400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:66209400-66214800	Weak transcription	Primary B cells from cord blood	blood
13	chr14:66209400-66215000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:66209400-66217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:66209400-66217600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:66209400-66219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:66209600-66212400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:66209600-66212400	Weak transcription	NHDF-Ad	bronchial
19	chr14:66209600-66213200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:66209600-66213200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:66209600-66213800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:66209600-66213800	Weak transcription	Ovary	ovary
23	chr14:66209600-66214600	Weak transcription	HSMMtube	muscle
24	chr14:66209600-66215200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:66209600-66216600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:66209600-66217800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:66209600-66217800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:66209600-66219000	Weak transcription	Thymus	Thymus
29	chr14:66209600-66219200	Weak transcription	Stomach Mucosa	stomach
30	chr14:66210400-66213400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:66210600-66212400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:66210600-66213000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:66210600-66217400	Weak transcription	GM12878-XiMat	blood
34	chr14:66210600-66217800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:66210800-66212800	Weak transcription	Primary T cells from cord blood	blood
36	chr14:66210800-66217400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:66211000-66212400	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:66211000-66212600	Weak transcription	Dnd41	blood
39	chr14:66211000-66213200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:66211000-66218000	Weak transcription	Fetal Intestine Large	intestine
41	chr14:66211200-66212400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:66211800-66212600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:66211800-66217600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:66212000-66212600	Enhancers	HepG2	liver
45	chr14:66212000-66213400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:66212000-66213400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:66212000-66213400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr14:66212000-66213400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:66212000-66213800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr14:66212200-66212400	Enhancers	H1 Cell Line	embryonic stem cell

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