Variant report

Variant	rs4897480
Chromosome Location	chr6:131322745-131322746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:131322734-131322940	GM12878	blood:	n/a	n/a
2	MYC	chr6:131321842-131322753	K562	blood:	n/a	n/a
3	BHLHE40	chr6:131322303-131322815	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131322346..131323948-chr6:131367071..131369025,2	K562	blood:
2	chr6:131322621..131325440-chr6:131350090..131351837,2	K562	blood:

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12661081	0.99[ASN][1000 genomes]
rs13193246	0.99[ASN][1000 genomes]
rs1332490	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1332491	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1338905	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17059896	1.00[ASN][1000 genomes]
rs17059925	1.00[ASN][1000 genomes]
rs1855077	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1888959	0.92[EUR][1000 genomes]
rs1976982	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2007339	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2151069	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2225557	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275065	0.83[ASN][1000 genomes]
rs3777450	0.83[ASN][1000 genomes]
rs3777453	0.83[ASN][1000 genomes]
rs3777463	0.91[ASN][1000 genomes]
rs3822864	0.83[ASN][1000 genomes]
rs4895902	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897481	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897482	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897488	0.88[EUR][1000 genomes]
rs4897490	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56027377	0.83[ASN][1000 genomes]
rs6569716	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6569718	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6569720	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6569722	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6569725	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6900810	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6908917	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6909134	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6928986	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6942081	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73623428	1.00[ASN][1000 genomes]
rs73774307	0.83[ASN][1000 genomes]
rs73774328	0.93[ASN][1000 genomes]
rs7742376	0.88[EUR][1000 genomes]
rs7747881	0.87[ASN][1000 genomes]
rs7765007	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765757	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7769153	0.87[ASN][1000 genomes]
rs9321268	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9372988	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9689026	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131314800-131325000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:131315800-131323200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:131315800-131325800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:131317600-131323200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:131318800-131325800	Weak transcription	Fetal Thymus	thymus
6	chr6:131318800-131328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:131318800-131329200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:131319000-131323200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:131319000-131323200	Weak transcription	Fetal Kidney	kidney
10	chr6:131319000-131323200	Weak transcription	NH-A	brain
11	chr6:131319000-131323200	Weak transcription	Osteobl	bone
12	chr6:131319000-131323400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:131319000-131323400	Weak transcription	A549	lung
14	chr6:131319000-131323400	Weak transcription	NHDF-Ad	bronchial
15	chr6:131319000-131324200	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:131319000-131324800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:131319000-131325000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:131319000-131325600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:131319200-131323200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:131319400-131324800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:131319600-131324800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:131319800-131323200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:131320400-131323200	Weak transcription	Left Ventricle	heart
24	chr6:131320400-131324600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:131320400-131325200	Weak transcription	Right Ventricle	heart
26	chr6:131321000-131324000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:131321000-131326600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:131321400-131323400	Enhancers	NHLF	lung
29	chr6:131321400-131323600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:131321400-131323600	Enhancers	Fetal Intestine Large	intestine
31	chr6:131321400-131323800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:131321400-131324000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:131321400-131325600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:131321600-131323600	Enhancers	Fetal Muscle Leg	muscle
35	chr6:131321600-131323600	Enhancers	Psoas Muscle	Psoas
36	chr6:131321600-131323800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:131321600-131323800	Enhancers	Fetal Heart	heart
38	chr6:131321800-131323600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr6:131321800-131323600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:131321800-131323600	Enhancers	Ovary	ovary
41	chr6:131321800-131323800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:131321800-131324000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:131321800-131324200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:131321800-131324200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:131321800-131327200	Enhancers	Fetal Stomach	stomach
46	chr6:131322000-131323200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:131322000-131323200	Weak transcription	Fetal Intestine Small	intestine
48	chr6:131322000-131323200	Weak transcription	Small Intestine	intestine
49	chr6:131322000-131323600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr6:131322000-131323600	Enhancers	K562	blood

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