Variant report

Variant	rs34864383
Chromosome Location	chr12:123033455-123033456
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	chr12:123027377..123029468-chr12:123032160..123034262,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1021705	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10846993	0.81[AMR][1000 genomes]
rs10847141	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10847169	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847170	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847234	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10847298	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10847329	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11058562	0.81[AMR][1000 genomes]
rs11058602	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11058710	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11058797	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11058839	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11058840	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11058862	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11059000	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11611668	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11612869	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12370850	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12817342	0.81[AMR][1000 genomes]
rs2062505	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3803004	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4579965	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61956121	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7398861	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7398939	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123035000	Weak transcription	Lung	lung
2	chr12:123012400-123036600	Weak transcription	Esophagus	oesophagus
3	chr12:123012400-123066000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
6	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
7	chr12:123012600-123036600	Weak transcription	Left Ventricle	heart
8	chr12:123012600-123042600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:123012600-123066200	Weak transcription	Psoas Muscle	Psoas
10	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:123012800-123036200	Weak transcription	Brain Anterior Caudate	brain
12	chr12:123012800-123036800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:123012800-123037200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:123012800-123037600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:123012800-123042000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:123012800-123042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:123012800-123065800	Weak transcription	Brain Substantia Nigra	brain
18	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
19	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:123013000-123037000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:123013000-123076400	Weak transcription	Right Ventricle	heart
22	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:123013200-123034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:123013200-123035200	Weak transcription	Liver	Liver
25	chr12:123013200-123036200	Weak transcription	Fetal Kidney	kidney
26	chr12:123013200-123036600	Weak transcription	Spleen	Spleen
27	chr12:123013200-123037600	Weak transcription	Small Intestine	intestine
28	chr12:123013200-123045800	Strong transcription	Fetal Thymus	thymus
29	chr12:123013200-123050000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:123013400-123041800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:123013400-123080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
35	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:123013800-123050000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:123014400-123084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:123014600-123085400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:123015400-123079800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:123015600-123115000	Strong transcription	Dnd41	blood
41	chr12:123017000-123038400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:123017000-123039200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:123017000-123045600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:123017200-123043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:123018200-123045000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:123018600-123049600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr12:123019000-123036000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:123019000-123036000	Weak transcription	Fetal Brain Male	brain
49	chr12:123022000-123035000	Weak transcription	Fetal Brain Female	brain
50	chr12:123022200-123084600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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