Variant report

Variant	rs2224243
Chromosome Location	chr10:38243061-38243062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38146086..38148210-chr10:38240772..38243631,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236514	Chromatin interaction
ENSG00000198105	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2180407	1.00[AMR][1000 genomes]
rs2504118	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2753881	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799494	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799497	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4353221	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs598822	1.00[AMR][1000 genomes]
rs662082	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs676376	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1052703	chr10:38174640-38266472	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38236400-38243800	Weak transcription	Fetal Stomach	stomach
2	chr10:38236800-38249000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:38237800-38247200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:38238000-38244200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:38238000-38248600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:38238400-38253000	Weak transcription	Fetal Intestine Small	intestine
7	chr10:38238600-38246400	Strong transcription	Psoas Muscle	Psoas
8	chr10:38238800-38248600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:38239000-38247000	Strong transcription	Left Ventricle	heart
10	chr10:38239000-38249400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr10:38239200-38246600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr10:38239200-38248000	Strong transcription	Adipose Nuclei	Adipose
13	chr10:38239400-38243400	Strong transcription	Lung	lung
14	chr10:38239400-38247400	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr10:38239400-38247800	Strong transcription	Brain Hippocampus Middle	brain
16	chr10:38239400-38248200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr10:38239600-38243600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:38239600-38245800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:38239600-38246400	Strong transcription	Brain Substantia Nigra	brain
20	chr10:38239600-38264400	Weak transcription	Fetal Heart	heart
21	chr10:38239600-38264600	Weak transcription	Stomach Mucosa	stomach
22	chr10:38240000-38246600	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr10:38240000-38247600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr10:38240200-38243400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr10:38240200-38243600	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr10:38240200-38244400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:38240200-38247800	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:38240400-38243600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:38240400-38244200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr10:38240400-38246800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr10:38240400-38247600	Strong transcription	Fetal Lung	lung
32	chr10:38240400-38249200	Strong transcription	Ovary	ovary
33	chr10:38240600-38243200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
34	chr10:38240600-38243200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr10:38240600-38244000	Strong transcription	Aorta	Aorta
36	chr10:38240600-38244600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:38240600-38247400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr10:38240600-38247400	Strong transcription	NHDF-Ad	bronchial
39	chr10:38240600-38247800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr10:38240600-38248200	Strong transcription	Fetal Muscle Leg	muscle
41	chr10:38240800-38243400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr10:38240800-38243400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
43	chr10:38240800-38243800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr10:38240800-38244000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:38240800-38246400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr10:38240800-38264000	Weak transcription	NHLF	lung
47	chr10:38241000-38243400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr10:38241000-38243400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
49	chr10:38241000-38243400	Strong transcription	Dnd41	blood
50	chr10:38241000-38243400	ZNF genes & repeats	HSMM	muscle

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