Variant report

Variant	rs3749830
Chromosome Location	chr5:126140522-126140523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126111922..126114546-chr5:126139894..126142503,2	K562	blood:
2	chr5:126139495..126141394-chr5:126144830..126147381,2	K562	blood:
3	chr5:126111922..126113626-chr5:126139894..126142741,2	K562	blood:

Variant related genes	Relation type
ENSG00000251072	Chromatin interaction
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12514703	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12514978	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12515255	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515582	1.00[CEU][hapmap]
rs12517303	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12518228	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12518331	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12520218	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12521266	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17165305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17165351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165359	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2230151	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34364708	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3805737	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3812062	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55699774	1.00[ASN][1000 genomes]
rs55924928	0.84[AMR][1000 genomes]
rs56052550	0.84[AMR][1000 genomes]
rs56121757	0.92[ASN][1000 genomes]
rs56366269	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58103919	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58418743	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59395878	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60107783	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60147760	0.92[ASN][1000 genomes]
rs60493556	0.84[ASN][1000 genomes]
rs60818126	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61074663	1.00[ASN][1000 genomes]
rs61383192	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780203	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72780207	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72780210	0.89[AMR][1000 genomes]
rs72780211	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72780212	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780215	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780216	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780217	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780218	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780220	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780222	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72798231	0.86[AFR][1000 genomes]
rs72798238	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72798243	0.92[ASN][1000 genomes]
rs72798245	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7447810	1.00[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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
6	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
8	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
10	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
11	chr5:126122600-126141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:126125400-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:126127800-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:126128800-126145800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:126129200-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:126129200-126141600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:126129200-126141800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:126130400-126142000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:126131600-126141600	Weak transcription	Fetal Intestine Small	intestine
21	chr5:126132000-126141200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:126132200-126141600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:126132200-126161200	Weak transcription	Gastric	stomach
24	chr5:126132400-126141800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:126133800-126141800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:126135200-126147200	Weak transcription	Fetal Brain Male	brain
27	chr5:126135400-126140800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:126136000-126145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:126136000-126175200	Strong transcription	Dnd41	blood
30	chr5:126136200-126142000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:126136200-126142000	Weak transcription	Hela-S3	cervix
32	chr5:126136400-126162400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:126137600-126141200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:126137600-126146800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:126137600-126154600	Weak transcription	Fetal Kidney	kidney
36	chr5:126137600-126166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:126137800-126141000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:126137800-126141000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:126137800-126141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:126137800-126141800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:126137800-126146400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr5:126137800-126147400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:126138400-126146000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:126138600-126141200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:126138800-126142000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:126139200-126141800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:126139400-126141800	Weak transcription	Liver	Liver
48	chr5:126139600-126140800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:126139800-126141200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:126139800-126144200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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