Variant report

Variant	rs28369949
Chromosome Location	chr2:100078760-100078761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
2	chr2:100077312..100079121-chr2:100100989..100102811,2	K562	blood:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10173883	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175852	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176205	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179343	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179435	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179697	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180138	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180688	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182492	0.85[EUR][1000 genomes]
rs10186223	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191001	0.88[ASN][1000 genomes]
rs10207435	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210257	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210346	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496337	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123776	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123778	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123783	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12162367	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617324	0.84[EUR][1000 genomes]
rs12623835	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989521	0.83[EUR][1000 genomes]
rs12992356	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001438	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13017843	0.87[EUR][1000 genomes]
rs13028722	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384665	0.94[ASN][1000 genomes]
rs13394927	0.85[EUR][1000 genomes]
rs13401163	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402784	0.84[EUR][1000 genomes]
rs13405400	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409359	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13416265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419448	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420087	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420293	0.85[EUR][1000 genomes]
rs13426758	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429806	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13430662	0.81[ASN][1000 genomes]
rs13430962	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431410	0.85[EUR][1000 genomes]
rs13432046	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376444	0.83[EUR][1000 genomes]
rs17022653	0.85[EUR][1000 genomes]
rs17022663	0.85[EUR][1000 genomes]
rs1882598	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922625	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1922627	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1948101	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309577	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309615	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309616	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28369929	0.81[EUR][1000 genomes]
rs28382945	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382947	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382955	0.85[EUR][1000 genomes]
rs28745279	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3087399	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792151	0.85[EUR][1000 genomes]
rs3828162	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522654	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4850902	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851197	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4851199	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4851201	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542877	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6706425	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712137	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721031	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726711	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744199	0.82[EUR][1000 genomes]
rs6745645	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749029	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72815074	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72815086	0.82[EUR][1000 genomes]
rs72817011	0.81[EUR][1000 genomes]
rs7567230	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7567462	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7569805	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579143	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579171	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581337	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7582085	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582133	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584022	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584705	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7585532	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7599384	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599843	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7603388	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606279	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9308819	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9308821	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308822	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308823	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973846	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv874700	chr2:100062163-100099989	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:100034200-100088800	Weak transcription	Small Intestine	intestine
3	chr2:100041600-100083400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:100048200-100090600	Weak transcription	Stomach Mucosa	stomach
5	chr2:100055400-100083200	Weak transcription	Right Ventricle	heart
6	chr2:100055600-100079800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:100055800-100089000	Weak transcription	Pancreas	Pancrea
8	chr2:100055800-100092600	Weak transcription	Gastric	stomach
9	chr2:100056600-100091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:100060400-100079200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:100061800-100079200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:100061800-100079400	Strong transcription	Liver	Liver
13	chr2:100062200-100079000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:100062200-100080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:100062200-100080600	Strong transcription	HepG2	liver
16	chr2:100062400-100079200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:100062600-100079200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr2:100063400-100078800	Strong transcription	Adipose Nuclei	Adipose
19	chr2:100063400-100079200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:100064000-100078800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:100065400-100087400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:100067200-100079200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:100067400-100081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:100067600-100079200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:100067800-100080000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:100068000-100079200	Strong transcription	Fetal Muscle Leg	muscle
27	chr2:100070200-100079000	Strong transcription	Osteobl	bone
28	chr2:100070600-100078800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:100070600-100079200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:100070800-100078800	Strong transcription	Primary B cells from cord blood	blood
31	chr2:100071000-100079200	Strong transcription	NHEK	skin
32	chr2:100071200-100079200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:100071200-100080600	Strong transcription	Dnd41	blood
34	chr2:100071400-100080400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:100071600-100079400	Strong transcription	Primary T cells from cord blood	blood
36	chr2:100071600-100080400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:100071800-100079000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:100072000-100079200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:100072400-100078800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:100072600-100079200	Strong transcription	HSMM	muscle
41	chr2:100073400-100090000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:100074200-100084800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:100075000-100078800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:100075200-100080400	Strong transcription	Fetal Intestine Large	intestine
45	chr2:100075200-100090400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:100075200-100103000	Weak transcription	Hela-S3	cervix
47	chr2:100075400-100078800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr2:100075400-100079200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:100075400-100079200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:100075400-100079200	Strong transcription	Fetal Muscle Trunk	muscle

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