Variant report

Variant	rs11850220
Chromosome Location	chr14:72192380-72192381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr14:72192245-72192444	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr14:72192367-72192559	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr14:72192272-72193199	IMR90	lung:	n/a	n/a
4	MYC	chr14:72192241-72193105	MCF10A-Er-Src	breast:	n/a	chr14:72192969-72192978

No.	Distal block	Cell Line	Cell type
1	chr14:72191378..72193291-chr14:72204518..72207982,3	MCF-7	breast:
2	chr14:72186285..72190344-chr14:72190566..72195953,4	MCF-7	breast:
3	chr14:71787077..71789568-chr14:72189980..72192774,2	MCF-7	breast:

Variant related genes	Relation type
SIPA1L1	TF binding region
ENSG00000197555	Chromatin interaction
ENSG00000259146	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17100926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
2	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:72160200-72202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:72165200-72202000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:72166800-72196400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:72168800-72201600	Weak transcription	Stomach Mucosa	stomach
7	chr14:72172000-72196800	Weak transcription	Colonic Mucosa	Colon
8	chr14:72176400-72194200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:72176400-72197000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:72176400-72200000	Weak transcription	Small Intestine	intestine
11	chr14:72177200-72196800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:72178800-72193400	Weak transcription	Fetal Heart	heart
13	chr14:72179000-72196400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:72179000-72196800	Weak transcription	Fetal Lung	lung
15	chr14:72182200-72207400	Strong transcription	GM12878-XiMat	blood
16	chr14:72183600-72192800	Weak transcription	Brain Germinal Matrix	brain
17	chr14:72185400-72196200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:72185800-72206200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr14:72187000-72204000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:72187600-72206200	Strong transcription	Dnd41	blood
21	chr14:72187600-72207600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr14:72187800-72206200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:72188200-72206400	Strong transcription	Primary T cells from cord blood	blood
24	chr14:72188400-72196600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:72188600-72206000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:72188800-72199400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:72188800-72205800	Strong transcription	Fetal Intestine Large	intestine
28	chr14:72188800-72207600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:72189200-72192400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:72189600-72192600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr14:72189600-72192800	Strong transcription	Thymus	Thymus
32	chr14:72189600-72193000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:72189600-72204400	Strong transcription	Fetal Stomach	stomach
34	chr14:72189800-72192600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:72189800-72192800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:72189800-72192800	Strong transcription	HepG2	liver
37	chr14:72189800-72194000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr14:72189800-72194600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr14:72189800-72205800	Strong transcription	Fetal Intestine Small	intestine
40	chr14:72189800-72206000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr14:72189800-72206000	Strong transcription	Spleen	Spleen
42	chr14:72189800-72206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:72189800-72206800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:72189800-72206800	Strong transcription	Primary B cells from cord blood	blood
45	chr14:72190000-72192600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr14:72190000-72192600	Strong transcription	Lung	lung
47	chr14:72190000-72194800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:72190000-72206000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:72190000-72206000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:72190200-72192400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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