Variant report

Variant	rs73289999
Chromosome Location	chr14:71380867-71380868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71376693..71378500-chr14:71379508..71383597,4	MCF-7	breast:
2	chr14:71378921..71381459-chr14:71390825..71392481,2	MCF-7	breast:
3	chr14:71372982..71375693-chr14:71378868..71383267,6	MCF-7	breast:
4	chr14:71379419..71381346-chr14:71385671..71388258,2	MCF-7	breast:
5	chr14:71372925..71376620-chr14:71377787..71383660,12	MCF-7	breast:
6	chr14:71376408..71378571-chr14:71380621..71383425,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11844851	1.00[AMR][1000 genomes]
rs4496061	1.00[AMR][1000 genomes]
rs56111655	1.00[AMR][1000 genomes]
rs56195946	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56709080	1.00[AMR][1000 genomes]
rs57509106	1.00[AMR][1000 genomes]
rs59122223	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59880130	0.96[AFR][1000 genomes]
rs59949441	1.00[AMR][1000 genomes]
rs60316971	1.00[AMR][1000 genomes]
rs60473605	1.00[AMR][1000 genomes]
rs7149960	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155387	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155471	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73289993	1.00[AMR][1000 genomes]
rs73289994	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290000	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291831	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291896	0.86[AFR][1000 genomes]
rs73293803	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293816	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293828	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295506	1.00[AMR][1000 genomes]
rs73295523	1.00[AMR][1000 genomes]
rs73295548	1.00[AMR][1000 genomes]
rs73295552	1.00[AMR][1000 genomes]
rs73295570	1.00[AMR][1000 genomes]
rs73297518	1.00[AMR][1000 genomes]
rs73297526	1.00[AMR][1000 genomes]
rs73297564	1.00[AMR][1000 genomes]
rs74060582	1.00[AMR][1000 genomes]
rs74060593	1.00[AMR][1000 genomes]
rs74061475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8019019	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71375600-71398400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:71376000-71396800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:71376000-71401000	Weak transcription	Lung	lung
4	chr14:71376200-71383000	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:71376400-71381000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr14:71376600-71381000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:71376600-71385400	Weak transcription	HUVEC	blood vessel
8	chr14:71376600-71386000	Weak transcription	Fetal Lung	lung
9	chr14:71376600-71389000	Weak transcription	HSMMtube	muscle
10	chr14:71376600-71398400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:71376800-71386200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:71377000-71383600	Weak transcription	HSMM	muscle
13	chr14:71377200-71384400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:71377200-71386600	Weak transcription	NHDF-Ad	bronchial
15	chr14:71377400-71381000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:71377400-71381800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:71377400-71382200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:71377400-71383600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:71377400-71385200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:71377400-71385400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:71377400-71385600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:71377400-71387400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:71377400-71391400	Weak transcription	Esophagus	oesophagus
24	chr14:71377400-71395000	Weak transcription	Brain Angular Gyrus	brain
25	chr14:71377400-71396800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:71377600-71383600	Weak transcription	Primary B cells from cord blood	blood
27	chr14:71377600-71386200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:71377800-71382600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr14:71377800-71383600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:71377800-71384400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:71377800-71386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:71377800-71386600	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:71377800-71386600	Weak transcription	NHLF	lung
34	chr14:71378000-71381400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:71378000-71383200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:71378000-71383400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:71378000-71383600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:71378000-71385600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:71378000-71385600	Weak transcription	NH-A	brain
40	chr14:71378000-71386000	Weak transcription	A549	lung
41	chr14:71378000-71386200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:71378000-71386400	Weak transcription	Fetal Brain Male	brain
43	chr14:71378000-71386600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:71378000-71393000	Weak transcription	Right Atrium	heart
45	chr14:71378000-71400600	Weak transcription	Fetal Kidney	kidney
46	chr14:71378200-71382600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:71378400-71385800	Weak transcription	NHEK	skin
48	chr14:71378400-71386600	Weak transcription	HMEC	breast
49	chr14:71378600-71383600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:71378600-71383800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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