Variant report

Variant	rs12544044
Chromosome Location	chr8:10662953-10662954
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	chr8:10661041..10663071-chr8:10663223..10664921,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10094907	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10097531	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10099021	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10099137	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10099928	0.81[EUR][1000 genomes]
rs10107180	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10107303	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10109034	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10113332	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11250069	0.81[EUR][1000 genomes]
rs12056936	0.86[EUR][1000 genomes]
rs12550169	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12550720	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12681175	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17152520	0.80[EUR][1000 genomes]
rs2116096	0.84[EUR][1000 genomes]
rs28429578	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28592638	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6601524	0.83[EUR][1000 genomes]
rs6985218	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6989072	0.83[EUR][1000 genomes]
rs6994595	0.83[EUR][1000 genomes]
rs7010926	0.82[EUR][1000 genomes]
rs714371	0.81[EUR][1000 genomes]
rs73544343	0.81[EUR][1000 genomes]
rs7820819	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7823088	0.84[EUR][1000 genomes]
rs7823521	0.81[EUR][1000 genomes]
rs7826180	0.82[EUR][1000 genomes]
rs7826458	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7838341	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs891554	0.86[EUR][1000 genomes]
rs891555	0.84[EUR][1000 genomes]
rs9644730	0.82[AMR][1000 genomes];0.89[EUR][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	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
6	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10618800-10665200	Weak transcription	Fetal Brain Female	brain
2	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:10623400-10665000	Weak transcription	Fetal Intestine Large	intestine
4	chr8:10623600-10667000	Weak transcription	Thymus	Thymus
5	chr8:10635400-10664400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:10640200-10669800	Weak transcription	Aorta	Aorta
7	chr8:10641200-10665000	Weak transcription	Dnd41	blood
8	chr8:10645000-10670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:10647000-10674400	Weak transcription	Right Ventricle	heart
10	chr8:10647000-10681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:10647200-10673600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:10647800-10669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:10648200-10663600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:10648200-10669800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:10648200-10683400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:10650000-10676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:10650600-10664000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:10650600-10664200	Weak transcription	Spleen	Spleen
19	chr8:10650600-10665000	Weak transcription	Fetal Intestine Small	intestine
20	chr8:10650600-10665000	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:10650600-10669000	Weak transcription	Fetal Stomach	stomach
22	chr8:10650600-10671200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:10650800-10669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:10653600-10664400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:10655800-10664400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:10657200-10670000	Weak transcription	Lung	lung
27	chr8:10657400-10681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:10657400-10685800	Weak transcription	Psoas Muscle	Psoas
29	chr8:10657600-10665000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:10657600-10670000	Weak transcription	Gastric	stomach
31	chr8:10657600-10674200	Weak transcription	Pancreas	Pancrea
32	chr8:10657600-10674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:10657600-10674600	Weak transcription	Esophagus	oesophagus
34	chr8:10657600-10674600	Weak transcription	Left Ventricle	heart
35	chr8:10657600-10681800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:10657800-10665000	Weak transcription	Adipose Nuclei	Adipose
37	chr8:10657800-10673000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:10657800-10673200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:10657800-10674400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:10657800-10674600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:10657800-10680600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:10657800-10680600	Weak transcription	HSMMtube	muscle
43	chr8:10658000-10664400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:10658000-10669400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:10658000-10669400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:10658400-10673000	Weak transcription	Liver	Liver
47	chr8:10658400-10676000	Weak transcription	HepG2	liver
48	chr8:10658600-10673400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:10658600-10676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:10659000-10663800	Weak transcription	Primary B cells from cord blood	blood

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