Variant report

Variant	rs2435352
Chromosome Location	chr10:43600689-43600690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43361928..43362761-chr10:43600658..43601529,2	MCF-7	breast:
2	chr10:43600575..43601274-chr8:145550248..145550759,2	NB4	blood:
3	chr10:42673929..42674445-chr10:43600657..43601190,2	K562	blood:
4	chr10:43571287..43574219-chr10:43600622..43603596,3	MCF-7	breast:
5	chr10:43361854..43362671-chr10:43600633..43601533,4	K562	blood:

Variant related genes	Relation type
ENSG00000165731	Chromatin interaction
ENSG00000185000	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2246676	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435342	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2435343	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2435345	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2435346	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2435347	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2435348	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2472738	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472740	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2505530	0.83[EUR][1000 genomes]
rs2505531	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2505532	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2505538	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2505539	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2505540	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2505992	0.94[ASN][1000 genomes]
rs2506022	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2506023	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2506024	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3123655	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3128726	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35800403	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs752975	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs752978	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv466880	chr10:43452436-43616751	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	nsv550695	chr10:43452436-43616751	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv522592	chr10:43574936-43615505	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv522566	chr10:43596728-43610671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43600000-43600800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:43600000-43600800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr10:43600000-43600800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr10:43600000-43600800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr10:43600000-43600800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:43600000-43600800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr10:43600000-43600800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
8	chr10:43600000-43600800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:43600000-43600800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:43600000-43600800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:43600000-43600800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr10:43600000-43600800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
13	chr10:43600000-43600800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr10:43600000-43601000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr10:43600000-43601000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr10:43600000-43601000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:43600000-43601000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:43600000-43601200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr10:43600000-43601400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:43600200-43600800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:43600200-43600800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:43600200-43600800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
23	chr10:43600200-43600800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr10:43600200-43600800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr10:43600200-43600800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:43600200-43600800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:43600200-43600800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr10:43600200-43600800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
29	chr10:43600200-43600800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
30	chr10:43600200-43600800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
31	chr10:43600200-43600800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
32	chr10:43600200-43600800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
33	chr10:43600200-43600800	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr10:43600200-43601000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr10:43600200-43601000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr10:43600200-43601000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:43600200-43601000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:43600200-43601000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr10:43600200-43601000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr10:43600200-43601000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr10:43600200-43601000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr10:43600200-43601000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
43	chr10:43600200-43601200	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr10:43600200-43601200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr10:43600200-43601200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr10:43600200-43601200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:43600200-43601200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:43600200-43601200	Active TSS	Rectal Smooth Muscle	rectum
49	chr10:43600200-43601400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:43600200-43601400	Flanking Active TSS	Right Ventricle	heart

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