Variant report

Variant	rs55674834
Chromosome Location	chr2:10806948-10806949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10804991..10808517-chr2:10827670..10830075,3	K562	blood:
2	chr2:10585145..10589357-chr2:10803647..10807943,5	K562	blood:
3	chr2:10806873..10808686-chr2:10824420..10826799,2	K562	blood:
4	chr2:10802211..10805058-chr2:10805711..10808326,2	K562	blood:
5	chr2:10704742..10707402-chr2:10805825..10808809,2	K562	blood:
6	chr2:10805936..10808564-chr2:10830578..10832851,2	K562	blood:
7	chr2:10584192..10588618-chr2:10803000..10809655,7	K562	blood:

Variant related genes	Relation type
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000243819	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10178247	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13005359	0.88[ASN][1000 genomes]
rs1586622	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1586623	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17364547	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17364568	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2110775	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357654	0.83[ASN][1000 genomes]
rs2357656	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4233884	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4669605	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4669606	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58445061	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6715461	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6725354	0.84[ASN][1000 genomes]
rs72777324	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72777328	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72777332	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72777335	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7572631	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs759398	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9798203	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers 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	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10772200-10808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:10779600-10808400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:10782200-10808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:10786400-10809200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10786600-10808400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:10787000-10808800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:10787400-10808400	Strong transcription	Placenta	Placenta
9	chr2:10787400-10808400	Strong transcription	Fetal Stomach	stomach
10	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
11	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
12	chr2:10789000-10820600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:10789400-10807800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:10789400-10808400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:10790000-10808400	Strong transcription	Fetal Thymus	thymus
16	chr2:10791600-10808200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:10792800-10808200	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:10793800-10828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:10794000-10823600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:10794200-10817200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:10794600-10828200	Weak transcription	Stomach Mucosa	stomach
22	chr2:10794600-10828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:10795200-10828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:10795600-10808200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:10796000-10808400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:10796200-10807400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:10796600-10808800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:10796800-10808400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:10797400-10823600	Weak transcription	Psoas Muscle	Psoas
30	chr2:10799200-10815400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:10799200-10826000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:10799400-10807000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:10799400-10823200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:10799800-10823200	Weak transcription	Colonic Mucosa	Colon
35	chr2:10800000-10808400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:10800200-10808400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:10800200-10829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:10800400-10808400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:10800400-10812000	Weak transcription	Pancreas	Pancrea
40	chr2:10800400-10812800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:10800600-10807600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:10801600-10808200	Strong transcription	Left Ventricle	heart
43	chr2:10801800-10807800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:10801800-10808200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr2:10801800-10808400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:10801800-10808400	Strong transcription	Fetal Intestine Large	intestine
47	chr2:10801800-10808600	Strong transcription	Hela-S3	cervix
48	chr2:10802400-10807600	Strong transcription	NHEK	skin
49	chr2:10802400-10828200	Weak transcription	Brain Germinal Matrix	brain
50	chr2:10802600-10808200	Strong transcription	Primary T cells from cord blood	blood

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