Variant report

Variant	rs41301473
Chromosome Location	chr14:65209680-65209681
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	chr14:65170433..65175465-chr14:65207632..65214317,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17179970	0.95[ASN][1000 genomes]
rs17179984	0.95[ASN][1000 genomes]
rs17180090	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17767188	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17767206	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1985465	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1985466	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1998120	0.91[ASN][1000 genomes]
rs229603	0.83[ASN][1000 genomes]
rs229620	0.87[ASN][1000 genomes]
rs229624	0.95[ASN][1000 genomes]
rs229625	0.87[ASN][1000 genomes]
rs229626	0.87[ASN][1000 genomes]
rs229644	0.87[ASN][1000 genomes]
rs229646	0.80[ASN][1000 genomes]
rs229650	0.87[ASN][1000 genomes]
rs229651	0.87[ASN][1000 genomes]
rs229655	0.87[ASN][1000 genomes]
rs229659	0.83[ASN][1000 genomes]
rs229660	0.83[ASN][1000 genomes]
rs229662	1.00[ASN][1000 genomes]
rs229663	1.00[ASN][1000 genomes]
rs229664	1.00[ASN][1000 genomes]
rs41307086	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58789159	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273513	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73273517	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73273524	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273534	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273536	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273546	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73273549	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754435	1.00[ASN][1000 genomes]
rs872296	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	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
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65192400-65210400	Weak transcription	Osteobl	bone
2	chr14:65193200-65212200	Weak transcription	Fetal Heart	heart
3	chr14:65193400-65212400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:65193400-65212400	Weak transcription	HSMMtube	muscle
5	chr14:65193600-65212800	Weak transcription	HUVEC	blood vessel
6	chr14:65193800-65212200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:65196600-65212200	Weak transcription	NHLF	lung
10	chr14:65198000-65214800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:65201000-65221800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:65201400-65212600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:65202200-65211200	Strong transcription	Ovary	ovary
14	chr14:65202200-65217400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:65202400-65212000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr14:65202600-65211200	Weak transcription	Fetal Thymus	thymus
17	chr14:65202600-65211400	Strong transcription	Rectal Smooth Muscle	rectum
18	chr14:65202800-65210800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:65202800-65211200	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:65202800-65211400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:65202800-65211800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr14:65202800-65212200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:65202800-65213000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:65202800-65215200	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr14:65203000-65211200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:65203000-65211400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:65203000-65211800	Weak transcription	Primary T cells from cord blood	blood
28	chr14:65203000-65214400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:65203200-65211800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:65203200-65212000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:65203400-65212000	Strong transcription	Colon Smooth Muscle	Colon
32	chr14:65203600-65212000	Strong transcription	Placenta	Placenta
33	chr14:65203600-65212400	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr14:65203600-65215000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:65203800-65210400	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:65203800-65210800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:65203800-65211200	Strong transcription	Adipose Nuclei	Adipose
38	chr14:65203800-65211200	Strong transcription	Gastric	stomach
39	chr14:65203800-65211400	Strong transcription	Lung	lung
40	chr14:65203800-65212200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:65203800-65212400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:65203800-65212600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:65203800-65214400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:65203800-65216800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr14:65204000-65211000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:65204000-65211200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:65204000-65212200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:65204000-65212800	Strong transcription	Fetal Stomach	stomach
49	chr14:65204000-65213000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr14:65204000-65215200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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