Variant report

Variant	rs74060258
Chromosome Location	chr14:70126953-70126954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70126205..70128384-chr14:70129571..70131836,3	K562	blood:
2	chr14:70087739..70089747-chr14:70125920..70128190,2	MCF-7	breast:
3	chr14:70083799..70085934-chr14:70125234..70127724,2	MCF-7	breast:
4	chr14:70125594..70128080-chr14:70133461..70135976,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11844446	1.00[EUR][1000 genomes]
rs11844465	1.00[EUR][1000 genomes]
rs11845465	1.00[EUR][1000 genomes]
rs11845528	1.00[EUR][1000 genomes]
rs11845658	1.00[EUR][1000 genomes]
rs11847510	1.00[EUR][1000 genomes]
rs11849924	1.00[EUR][1000 genomes]
rs12100899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs1957367	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs56051240	1.00[EUR][1000 genomes]
rs56808476	1.00[EUR][1000 genomes]
rs56859443	1.00[EUR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58053579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58140746	1.00[EUR][1000 genomes]
rs58503693	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58583730	1.00[EUR][1000 genomes]
rs60085780	1.00[EUR][1000 genomes]
rs60835679	1.00[EUR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs61734222	1.00[EUR][1000 genomes]
rs61745930	1.00[EUR][1000 genomes]
rs7144597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060205	1.00[EUR][1000 genomes]
rs74060220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060234	1.00[EUR][1000 genomes]
rs74060251	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060261	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060263	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060267	1.00[EUR][1000 genomes]
rs74060270	1.00[EUR][1000 genomes]
rs74060281	1.00[EUR][1000 genomes]
rs74060283	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74060575	1.00[EUR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[EUR][1000 genomes]
rs74061850	1.00[EUR][1000 genomes]
rs74061851	1.00[EUR][1000 genomes]
rs74061853	1.00[EUR][1000 genomes]
rs74061856	1.00[EUR][1000 genomes]
rs74061857	1.00[EUR][1000 genomes]
rs74061864	1.00[EUR][1000 genomes]
rs8009986	1.00[EUR][1000 genomes]

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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70116600-70130400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:70117800-70127800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:70119000-70129200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:70120800-70129200	Weak transcription	Fetal Kidney	kidney
5	chr14:70121400-70129200	Weak transcription	A549	lung
6	chr14:70122200-70129600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:70123000-70128400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:70123600-70129200	Strong transcription	Primary B cells from cord blood	blood
10	chr14:70123800-70137600	Weak transcription	Dnd41	blood
11	chr14:70124600-70129600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:70124600-70129800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:70124600-70130400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:70124800-70127200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:70124800-70127600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:70124800-70127600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:70125000-70127400	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr14:70125000-70128000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr14:70125000-70129200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:70125200-70127000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:70125200-70127200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:70125200-70127200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:70125200-70127600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:70125200-70127600	Weak transcription	Psoas Muscle	Psoas
25	chr14:70125200-70127800	Strong transcription	Primary T cells from cord blood	blood
26	chr14:70125200-70127800	Strong transcription	Fetal Stomach	stomach
27	chr14:70125200-70128400	Strong transcription	Thymus	Thymus
28	chr14:70125200-70131400	Genic enhancers	GM12878-XiMat	blood
29	chr14:70125400-70127200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:70125400-70127200	Weak transcription	Aorta	Aorta
31	chr14:70125400-70127400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:70125400-70127400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:70125400-70127400	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr14:70125400-70129400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:70125600-70127200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:70125600-70127200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:70125600-70127200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:70125600-70127200	Weak transcription	HUVEC	blood vessel
39	chr14:70125600-70127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:70125600-70127400	Strong transcription	Brain Substantia Nigra	brain
41	chr14:70125600-70127400	Genic enhancers	K562	blood
42	chr14:70125600-70127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:70125600-70127800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr14:70125600-70127800	Strong transcription	Fetal Thymus	thymus
45	chr14:70125600-70128000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:70125600-70128000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:70125600-70128200	Weak transcription	Fetal Lung	lung
48	chr14:70125600-70128400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:70125600-70128800	Weak transcription	Hela-S3	cervix
50	chr14:70125600-70129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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