Variant report

Variant	rs1795721
Chromosome Location	chr4:89943473-89943474
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:89436928..89438530-chr4:89943271..89945342,2	K562	blood:
2	chr4:89937387..89940486-chr4:89941905..89944356,3	K562	blood:
3	chr4:89441809..89444067-chr4:89942046..89944719,2	K562	blood:
4	chr4:89942555..89945377-chr4:89950221..89952827,2	K562	blood:

Variant related genes	Relation type
ENSG00000138641	Chromatin interaction
ENSG00000138640	Chromatin interaction
ENSG00000255072	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1060693	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11097215	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap]
rs12647382	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13143981	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1343921	0.86[JPT][hapmap]
rs1398947	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1458558	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1513807	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1513824	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1708660	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1708661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1708674	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs1708675	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1708678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1708679	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1708680	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1708682	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1708684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795728	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795731	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1795732	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs1795733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1807870	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1818494	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2037036	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2037037	0.80[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2458545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2464513	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609267	0.81[ASN][1000 genomes]
rs2670624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2670625	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2670626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2670629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2670630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28498689	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2869987	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs59610544	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60535906	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62308652	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6532094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6844490	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs6846926	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7440590	0.87[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs7691983	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs9307062	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs938266	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs938268	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap]
rs9993181	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89903000-89957200	Weak transcription	HSMM	muscle
2	chr4:89912200-89943800	Weak transcription	Psoas Muscle	Psoas
3	chr4:89913400-89944000	Weak transcription	Gastric	stomach
4	chr4:89921000-89950600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:89922600-89949800	Weak transcription	HMEC	breast
6	chr4:89922800-89945600	Weak transcription	A549	lung
7	chr4:89923600-89945600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:89923800-89943800	Weak transcription	Right Atrium	heart
9	chr4:89923800-89944400	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:89926400-89949600	Weak transcription	Left Ventricle	heart
11	chr4:89926800-89951400	Weak transcription	Right Ventricle	heart
12	chr4:89931200-89944000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:89931600-89943600	Weak transcription	Small Intestine	intestine
14	chr4:89931600-89945400	Weak transcription	Liver	Liver
15	chr4:89932200-89943800	Weak transcription	Pancreas	Pancrea
16	chr4:89933600-89951400	Weak transcription	NHLF	lung
17	chr4:89933800-89945400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:89934000-89945000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:89936400-89943800	Weak transcription	Lung	lung
20	chr4:89936600-89943800	Weak transcription	Placenta	Placenta
21	chr4:89936800-89945400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:89937200-89944000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:89937200-89975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:89937400-89945600	Weak transcription	Osteobl	bone
25	chr4:89938200-89944400	Weak transcription	Adipose Nuclei	Adipose
26	chr4:89938200-89953000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:89939600-89951200	Weak transcription	NHEK	skin
28	chr4:89940000-89945200	Weak transcription	Fetal Kidney	kidney
29	chr4:89940200-89945000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:89940200-89949800	Weak transcription	Primary T cells from cord blood	blood
31	chr4:89940200-89957800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:89940400-89943600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:89940400-89944000	Weak transcription	HSMMtube	muscle
34	chr4:89940400-89944600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:89940400-89944800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:89940400-89956600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:89940400-89956600	Weak transcription	NH-A	brain
38	chr4:89940400-89957800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:89940400-89957800	Weak transcription	Aorta	Aorta
40	chr4:89940400-89959000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:89940400-89961000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:89940600-89943800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:89940600-89954400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:89940600-89956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:89940600-89956000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:89940600-89957800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:89940600-89957800	Weak transcription	Ovary	ovary
48	chr4:89940800-89945600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:89940800-89956800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:89941200-89956000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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