Variant report

Variant	rs1234220
Chromosome Location	chr10:89645473-89645474
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	chr10:89622085..89623655-chr10:89643936..89646220,2	MCF-7	breast:
2	chr10:89639033..89641731-chr10:89644524..89647018,2	K562	blood:

Variant related genes	Relation type
ENSG00000171862	Chromatin interaction
ENSG00000227268	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11202595	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11202597	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11202600	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[ASN][1000 genomes]
rs11202607	0.86[CHB][hapmap];0.94[CHD][hapmap]
rs11525294	0.81[ASN][1000 genomes]
rs12220739	0.81[ASN][1000 genomes]
rs1234219	1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[ASN][1000 genomes]
rs1234223	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs500469	0.84[EUR][1000 genomes]
rs647416	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793643	chr10:89625582-89645473	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1793518	chr10:89625582-89733420	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1798260	chr10:89625582-89733420	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv551832	chr10:89630424-89650759	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1050406	chr10:89632138-89657906	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89624400-89646400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:89625600-89663000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:89627200-89645800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr10:89627600-89645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:89628200-89646200	Weak transcription	Fetal Muscle Leg	muscle
6	chr10:89628200-89646600	Weak transcription	Colonic Mucosa	Colon
7	chr10:89628400-89662000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:89628600-89645800	Weak transcription	HSMMtube	muscle
9	chr10:89628800-89645600	Weak transcription	Fetal Kidney	kidney
10	chr10:89628800-89647000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:89629400-89646200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:89630000-89645600	Weak transcription	NH-A	brain
13	chr10:89631000-89645600	Weak transcription	Fetal Brain Female	brain
14	chr10:89631000-89645800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr10:89631000-89647400	Weak transcription	Fetal Brain Male	brain
16	chr10:89631000-89663400	Weak transcription	Brain Angular Gyrus	brain
17	chr10:89631600-89647400	Weak transcription	Gastric	stomach
18	chr10:89631600-89647400	Weak transcription	Psoas Muscle	Psoas
19	chr10:89633000-89663400	Weak transcription	Pancreas	Pancrea
20	chr10:89633400-89645600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr10:89633400-89645600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:89633400-89645600	Weak transcription	Left Ventricle	heart
23	chr10:89633400-89645800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:89633400-89645800	Weak transcription	Fetal Stomach	stomach
25	chr10:89633400-89645800	Weak transcription	Lung	lung
26	chr10:89633400-89646000	Weak transcription	Ovary	ovary
27	chr10:89633400-89646400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:89633400-89646600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr10:89633400-89647400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr10:89633400-89675800	Weak transcription	Small Intestine	intestine
31	chr10:89633800-89655600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:89634000-89646800	Weak transcription	HepG2	liver
33	chr10:89634200-89645600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:89634200-89645800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:89634200-89646400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr10:89635000-89645600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr10:89635800-89645600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr10:89635800-89645800	Weak transcription	Adipose Nuclei	Adipose
39	chr10:89636000-89655400	Weak transcription	Brain Substantia Nigra	brain
40	chr10:89636200-89661800	Weak transcription	Brain Anterior Caudate	brain
41	chr10:89636600-89645800	Weak transcription	Fetal Lung	lung
42	chr10:89636800-89649400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:89637600-89646400	Strong transcription	Fetal Thymus	thymus
44	chr10:89638200-89647400	Weak transcription	Right Ventricle	heart
45	chr10:89638600-89646400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr10:89638800-89646200	Weak transcription	NHEK	skin
47	chr10:89639000-89645600	Weak transcription	Placenta	Placenta
48	chr10:89639000-89645800	Weak transcription	Primary T cells from cord blood	blood
49	chr10:89639000-89646200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:89639000-89655400	Weak transcription	Fetal Heart	heart

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