Variant report

Variant	rs17246441
Chromosome Location	chr14:66203216-66203217
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66198099..66200739-chr14:66200960..66203371,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10130526	0.85[ASN][1000 genomes]
rs10143920	0.85[ASN][1000 genomes]
rs11847101	0.98[ASN][1000 genomes]
rs11849249	0.98[ASN][1000 genomes]
rs11849792	0.94[ASN][1000 genomes]
rs12431562	0.81[ASN][1000 genomes]
rs12431694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12431772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12432032	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12432326	1.00[AFR][1000 genomes]
rs12432422	0.98[ASN][1000 genomes]
rs12432426	0.81[ASN][1000 genomes]
rs12433273	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12433830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12433947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12433950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12434375	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12434465	1.00[EUR][1000 genomes]
rs12434626	0.85[ASN][1000 genomes]
rs12435769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12435809	0.89[ASN][1000 genomes]
rs12435971	0.98[ASN][1000 genomes]
rs12436148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12436349	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12436402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12436434	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12436482	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12436677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12436771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12437088	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17102839	0.89[ASN][1000 genomes]
rs17102854	0.96[ASN][1000 genomes]
rs17102894	0.98[ASN][1000 genomes]
rs17102898	0.98[ASN][1000 genomes]
rs17102910	0.83[ASN][1000 genomes]
rs17246385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17246504	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17246532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17826892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952605	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2073295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268965	0.96[ASN][1000 genomes]
rs2295360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2300863	0.94[ASN][1000 genomes]
rs2300866	0.94[ASN][1000 genomes]
rs2300870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28496380	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2898701	0.98[ASN][1000 genomes]
rs56821971	0.81[ASN][1000 genomes]
rs58087042	0.85[ASN][1000 genomes]
rs59036531	0.98[ASN][1000 genomes]
rs61417186	0.85[ASN][1000 genomes]
rs61987778	0.98[ASN][1000 genomes]
rs61987810	0.85[ASN][1000 genomes]
rs6573636	1.00[AFR][1000 genomes]
rs74056820	0.85[ASN][1000 genomes]
rs74056844	0.83[ASN][1000 genomes]
rs74056845	0.83[ASN][1000 genomes]
rs74056851	0.81[ASN][1000 genomes]
rs74056863	1.00[EUR][1000 genomes]
rs74058505	0.81[ASN][1000 genomes]
rs74058525	0.85[ASN][1000 genomes]
rs74058541	0.85[ASN][1000 genomes]
rs74058560	0.96[ASN][1000 genomes]
rs74058562	0.96[ASN][1000 genomes]
rs8004564	0.94[ASN][1000 genomes]
rs8008391	1.00[AFR][1000 genomes]
rs956582	0.96[ASN][1000 genomes]
rs997794	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66179000-66206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:66185400-66209000	Weak transcription	Brain Angular Gyrus	brain
3	chr14:66186400-66208800	Weak transcription	Fetal Brain Female	brain
4	chr14:66187000-66209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:66187400-66208600	Weak transcription	Placenta	Placenta
6	chr14:66188000-66210800	Weak transcription	Fetal Lung	lung
7	chr14:66188400-66210600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr14:66188800-66208800	Weak transcription	Liver	Liver
9	chr14:66189000-66209000	Weak transcription	NHDF-Ad	bronchial
10	chr14:66189600-66210800	Weak transcription	NHLF	lung
11	chr14:66189800-66209000	Weak transcription	HSMMtube	muscle
12	chr14:66190000-66208800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:66190000-66210800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:66190200-66210800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:66190400-66217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:66191600-66212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:66191800-66204400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:66191800-66208600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:66191800-66208800	Weak transcription	Gastric	stomach
20	chr14:66191800-66208800	Weak transcription	Pancreas	Pancrea
21	chr14:66191800-66210800	Weak transcription	HSMM	muscle
22	chr14:66191800-66217800	Weak transcription	Small Intestine	intestine
23	chr14:66192000-66206800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:66192200-66208800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:66192400-66210200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:66192600-66210400	Weak transcription	Right Ventricle	heart
27	chr14:66192800-66210600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:66192800-66211800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:66192800-66212200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:66193000-66218800	Weak transcription	Colonic Mucosa	Colon
31	chr14:66193200-66206600	Strong transcription	Dnd41	blood
32	chr14:66193200-66208800	Weak transcription	Adipose Nuclei	Adipose
33	chr14:66193800-66208800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:66193800-66208800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:66194200-66207400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr14:66194200-66208800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:66194200-66210600	Weak transcription	Spleen	Spleen
38	chr14:66194400-66204400	Weak transcription	Fetal Intestine Large	intestine
39	chr14:66194400-66205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:66194400-66208600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:66194400-66208600	Weak transcription	Ovary	ovary
42	chr14:66194400-66208800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:66194400-66208800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:66194400-66208800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:66194400-66208800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:66194400-66208800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:66194400-66209000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:66194400-66209000	Weak transcription	Thymus	Thymus
49	chr14:66194400-66210800	Weak transcription	Fetal Stomach	stomach
50	chr14:66194400-66210800	Weak transcription	Lung	lung

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