Variant report

Variant	rs7149291
Chromosome Location	chr14:103882714-103882715
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	chr14:103876768..103879568-chr14:103882112..103883749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244691	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10137098	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10146340	1.00[AMR][1000 genomes]
rs10149270	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151139	0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11621406	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11625988	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12887238	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1951393	0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2065014	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2065020	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2145858	0.82[AFR][1000 genomes]
rs2180992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2403175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2403181	0.81[AFR][1000 genomes]
rs2756130	1.00[YRI][hapmap]
rs2756131	1.00[YRI][hapmap]
rs2765053	1.00[YRI][hapmap]
rs34721082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4900576	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4906326	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4906328	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs6575987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6575989	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6575990	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6575993	0.84[AFR][1000 genomes]
rs7146717	0.90[YRI][hapmap]
rs7152150	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153380	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8003497	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014010	0.86[AFR][1000 genomes]
rs911550	1.00[YRI][hapmap]
rs911556	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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:103868400-103883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:103868400-103883800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:103868600-103883200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:103869600-103882800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:103870800-103883200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:103870800-103883200	Weak transcription	HSMMtube	muscle
9	chr14:103871000-103883000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:103871000-103883200	Weak transcription	Aorta	Aorta
11	chr14:103871000-103883600	Strong transcription	Dnd41	blood
12	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:103871400-103882800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:103871600-103883200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:103871600-103883400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:103872000-103883200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:103872200-103883800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr14:103874600-103884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:103874800-103883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:103875200-103888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:103875200-103889200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:103875200-103893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:103875400-103882800	Weak transcription	Right Atrium	heart
25	chr14:103875400-103883000	Weak transcription	Brain Angular Gyrus	brain
26	chr14:103875400-103883200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:103875400-103883200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:103875400-103883600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:103875400-103884200	Weak transcription	Psoas Muscle	Psoas
30	chr14:103875400-103884600	Weak transcription	Small Intestine	intestine
31	chr14:103875400-103887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:103875400-103888600	Weak transcription	Gastric	stomach
33	chr14:103875400-103889600	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:103875400-103892200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:103875400-103893600	Weak transcription	Brain Germinal Matrix	brain
36	chr14:103875600-103882800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:103875600-103883000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:103875600-103883400	Weak transcription	Stomach Mucosa	stomach
39	chr14:103875600-103884600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:103875600-103893800	Weak transcription	Fetal Heart	heart
41	chr14:103875600-103894000	Weak transcription	Fetal Brain Male	brain
42	chr14:103875800-103889800	Weak transcription	Lung	lung
43	chr14:103876600-103883400	Strong transcription	Fetal Thymus	thymus
44	chr14:103876800-103883000	Weak transcription	Brain Substantia Nigra	brain
45	chr14:103876800-103887800	Weak transcription	Pancreas	Pancrea
46	chr14:103877400-103883400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:103877800-103883400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr14:103878200-103883200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:103879000-103882800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:103879000-103883000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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