Variant report

Variant	rs2147416
Chromosome Location	chr10:90700158-90700159
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90699665..90701412-chr10:90702031..90703701,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11202875	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[EUR][1000 genomes]
rs12241898	0.93[MKK][hapmap];0.82[YRI][hapmap]
rs12242191	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264840	1.00[CEU][hapmap]
rs17096285	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17114120	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17114186	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs2231786	0.80[MKK][hapmap]
rs3758487	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41284112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45473701	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59597720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59889518	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586153	0.91[EUR][1000 genomes]
rs7077534	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7077849	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7077956	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs74147301	0.91[EUR][1000 genomes]
rs74147448	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7899463	1.00[CEU][hapmap]
rs7904718	0.91[EUR][1000 genomes]
rs7906786	0.91[EUR][1000 genomes]
rs7908124	0.91[EUR][1000 genomes]
rs7911566	1.00[CEU][hapmap]

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	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90655200-90701400	Weak transcription	Gastric	stomach
2	chr10:90692400-90711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:90694600-90707400	Strong transcription	HSMMtube	muscle
4	chr10:90695000-90703800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:90695200-90700800	Weak transcription	Esophagus	oesophagus
6	chr10:90695200-90701600	Weak transcription	Colonic Mucosa	Colon
7	chr10:90695200-90702400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr10:90695200-90703400	Weak transcription	Pancreas	Pancrea
9	chr10:90695200-90703800	Weak transcription	A549	lung
10	chr10:90695200-90704400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr10:90695200-90704800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:90695400-90703400	Strong transcription	Fetal Stomach	stomach
13	chr10:90695600-90700600	Strong transcription	NH-A	brain
14	chr10:90695600-90700800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr10:90695600-90700800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:90695600-90703400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr10:90695600-90703800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr10:90695600-90703800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:90695600-90704000	Strong transcription	Fetal Intestine Small	intestine
20	chr10:90695600-90704200	Strong transcription	NHLF	lung
21	chr10:90695600-90705200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:90695600-90706200	Strong transcription	Osteobl	bone
23	chr10:90695600-90707200	Strong transcription	Fetal Muscle Leg	muscle
24	chr10:90695600-90710200	Weak transcription	NHEK	skin
25	chr10:90695600-90710800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr10:90695800-90700800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:90695800-90701400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:90695800-90701600	Weak transcription	Stomach Mucosa	stomach
29	chr10:90695800-90701800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:90695800-90703200	Weak transcription	Dnd41	blood
31	chr10:90695800-90704000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr10:90695800-90704400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr10:90695800-90704600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr10:90695800-90707400	Strong transcription	Fetal Intestine Large	intestine
35	chr10:90695800-90708200	Weak transcription	Liver	Liver
36	chr10:90695800-90708400	Weak transcription	Fetal Heart	heart
37	chr10:90695800-90709800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:90695800-90709800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:90695800-90709800	Weak transcription	HMEC	breast
40	chr10:90695800-90710000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr10:90695800-90710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:90695800-90710800	Weak transcription	Brain Hippocampus Middle	brain
43	chr10:90695800-90710800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:90695800-90711000	Weak transcription	Brain Angular Gyrus	brain
45	chr10:90695800-90711200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr10:90695800-90720800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:90696200-90702600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr10:90696400-90700400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr10:90696400-90701000	Strong transcription	Spleen	Spleen
50	chr10:90696400-90701200	Strong transcription	Adipose Nuclei	Adipose

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