Variant report

Variant	rs74061478
Chromosome Location	chr14:71380752-71380753
allele	C/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: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11158889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101084	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17093721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108799	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108983	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902868	1.00[AMR][1000 genomes]
rs4902869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902876	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55676023	1.00[AMR][1000 genomes]
rs55719012	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55805880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55932126	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56021333	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56074375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56146244	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162958	1.00[AMR][1000 genomes]
rs56176664	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56364038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56370042	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56381228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57165551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57780261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57989056	1.00[AMR][1000 genomes]
rs58710947	0.88[AFR][1000 genomes]
rs58835218	1.00[AMR][1000 genomes]
rs59364493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59575910	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59782613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60413410	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160759	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160982	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060515	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060516	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060517	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060519	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060520	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060521	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060523	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060524	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060525	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060559	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060561	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060563	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060580	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061467	1.00[AMR][1000 genomes]
rs74061477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061485	1.00[AFR][1000 genomes]
rs74061491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74063507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8015969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8021150	0.88[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	chr14:71376000-71380800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:71376000-71396800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:71376000-71401000	Weak transcription	Lung	lung
5	chr14:71376200-71383000	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:71376400-71381000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr14:71376600-71381000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:71376600-71385400	Weak transcription	HUVEC	blood vessel
9	chr14:71376600-71386000	Weak transcription	Fetal Lung	lung
10	chr14:71376600-71389000	Weak transcription	HSMMtube	muscle
11	chr14:71376600-71398400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:71376800-71386200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:71377000-71383600	Weak transcription	HSMM	muscle
14	chr14:71377200-71384400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:71377200-71386600	Weak transcription	NHDF-Ad	bronchial
16	chr14:71377400-71381000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:71377400-71381800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:71377400-71382200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:71377400-71383600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:71377400-71385200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:71377400-71385400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:71377400-71385600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:71377400-71387400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:71377400-71391400	Weak transcription	Esophagus	oesophagus
25	chr14:71377400-71395000	Weak transcription	Brain Angular Gyrus	brain
26	chr14:71377400-71396800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:71377600-71383600	Weak transcription	Primary B cells from cord blood	blood
28	chr14:71377600-71386200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:71377800-71382600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr14:71377800-71383600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:71377800-71384400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:71377800-71386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:71377800-71386600	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:71377800-71386600	Weak transcription	NHLF	lung
35	chr14:71378000-71381400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:71378000-71383200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:71378000-71383400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:71378000-71383600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:71378000-71385600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:71378000-71385600	Weak transcription	NH-A	brain
41	chr14:71378000-71386000	Weak transcription	A549	lung
42	chr14:71378000-71386200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:71378000-71386400	Weak transcription	Fetal Brain Male	brain
44	chr14:71378000-71386600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr14:71378000-71393000	Weak transcription	Right Atrium	heart
46	chr14:71378000-71400600	Weak transcription	Fetal Kidney	kidney
47	chr14:71378200-71382600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:71378400-71385800	Weak transcription	NHEK	skin
49	chr14:71378400-71386600	Weak transcription	HMEC	breast
50	chr14:71378600-71383600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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