Variant report

Variant	rs229629
Chromosome Location	chr14:65255308-65255309
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65255152..65259640-chr14:65260607..65263310,4	K562	blood:
2	chr14:65254966..65256507-chr14:65486443..65488468,2	K562	blood:
3	chr14:65250375..65252086-chr14:65255128..65257379,2	K562	blood:
4	chr14:65255220..65257870-chr14:65263739..65266430,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1626923	0.91[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1695764	0.83[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs170684	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1741485	0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1741486	0.83[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1741487	0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1741488	0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1741489	0.85[ASN][1000 genomes]
rs229635	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229638	0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs229640	0.88[ASN][1000 genomes]
rs229641	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229642	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs229643	0.85[ASN][1000 genomes]
rs2357726	0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2357727	0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2884253	0.80[JPT][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs368194	0.82[CHB][hapmap]
rs3819932	0.83[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56361624	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6573568	0.81[JPT][hapmap]
rs77806	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	esv2757572	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2759994	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:65232200-65274200	Weak transcription	Gastric	stomach
4	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
5	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:65245200-65257600	Weak transcription	HSMMtube	muscle
8	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
9	chr14:65251000-65261000	Weak transcription	Brain Angular Gyrus	brain
10	chr14:65251200-65260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:65251200-65267400	Weak transcription	Fetal Kidney	kidney
12	chr14:65251400-65257200	Weak transcription	Right Ventricle	heart
13	chr14:65251400-65257400	Weak transcription	Brain Germinal Matrix	brain
14	chr14:65251400-65259600	Weak transcription	Brain Anterior Caudate	brain
15	chr14:65251600-65264400	Weak transcription	Fetal Heart	heart
16	chr14:65251800-65258000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:65252200-65265600	Weak transcription	Fetal Brain Female	brain
18	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:65252800-65256600	Weak transcription	Left Ventricle	heart
20	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
21	chr14:65253000-65255600	Enhancers	HUVEC	blood vessel
22	chr14:65253600-65256600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:65253800-65257800	Weak transcription	Fetal Stomach	stomach
24	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
25	chr14:65254200-65255800	Strong transcription	K562	blood
26	chr14:65254400-65255600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:65254600-65257400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr14:65254800-65255600	Enhancers	NHDF-Ad	bronchial
29	chr14:65254800-65256400	Enhancers	A549	lung
30	chr14:65254800-65256800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:65254800-65257800	Enhancers	HMEC	breast
32	chr14:65254800-65259800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:65255000-65255600	Enhancers	NH-A	brain
34	chr14:65255000-65256000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:65255000-65256000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:65255000-65256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:65255000-65256800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:65255000-65256800	Enhancers	Hela-S3	cervix
39	chr14:65255000-65258600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:65255200-65255400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:65255200-65255600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:65255200-65255600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:65255200-65256000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:65255200-65256000	Enhancers	Osteobl	bone
45	chr14:65255200-65256400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:65255200-65256800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:65255200-65257000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:65255200-65257000	Enhancers	NHEK	skin
49	chr14:65255200-65258600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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