Variant report

Variant	rs60215702
Chromosome Location	chr6:131315940-131315941
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:131314347..131316651-chr6:131330693..131332360,2	K562	blood:
2	chr6:131315063..131319748-chr6:131319876..131324209,7	MCF-7	breast:
3	chr6:131315398..131317162-chr6:131319335..131320916,2	K562	blood:

Variant related genes	Relation type
ENSG00000079819	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10499175	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10499176	1.00[AFR][1000 genomes]
rs10499178	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10499181	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17053471	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17059735	1.00[AFR][1000 genomes]
rs17059739	1.00[AFR][1000 genomes]
rs17059760	1.00[AFR][1000 genomes]
rs17059787	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17059799	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17059801	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17059808	0.80[ASN][1000 genomes]
rs17059810	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17059851	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17059853	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17059909	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17059938	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17059963	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17059968	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17059974	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17059981	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17060041	1.00[AFR][1000 genomes]
rs1972244	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1999473	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2183968	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2275064	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs3777433	1.00[AFR][1000 genomes]
rs3777437	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs3777443	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3777447	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs3777448	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs3777451	1.00[AFR][1000 genomes]
rs3777456	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3822859	1.00[AFR][1000 genomes]
rs3822860	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3822865	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4142572	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4142581	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45577234	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs57189640	1.00[AFR][1000 genomes]
rs57208456	1.00[AFR][1000 genomes]
rs57211621	1.00[AFR][1000 genomes]
rs58130017	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs59036192	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59271461	0.91[ASN][1000 genomes]
rs59627131	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60697593	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs60732147	1.00[AFR][1000 genomes]
rs60877807	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs60954662	0.91[ASN][1000 genomes]
rs61217522	1.00[AFR][1000 genomes]
rs61625259	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72499769	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131306800-131317000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:131306800-131317200	Weak transcription	NHLF	lung
3	chr6:131306800-131317400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:131306800-131320000	Weak transcription	Left Ventricle	heart
5	chr6:131309200-131317200	Weak transcription	Adipose Nuclei	Adipose
6	chr6:131310400-131316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:131311400-131318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:131312400-131317000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:131312400-131318400	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:131312600-131317400	Weak transcription	Fetal Stomach	stomach
11	chr6:131312600-131321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:131313000-131318400	Weak transcription	Fetal Kidney	kidney
13	chr6:131313200-131317000	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:131313400-131316800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:131313600-131316800	Weak transcription	Fetal Lung	lung
16	chr6:131313600-131316800	Weak transcription	Osteobl	bone
17	chr6:131313600-131317400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:131313800-131316800	Weak transcription	NHEK	skin
19	chr6:131313800-131317600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:131314000-131316800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:131314000-131317600	Enhancers	Placenta	Placenta
22	chr6:131314000-131318000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:131314400-131317400	Weak transcription	HSMM	muscle
24	chr6:131314400-131318000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:131314800-131322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:131314800-131325000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:131315000-131316200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:131315200-131321400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:131315400-131316000	Active TSS	Placenta Amnion	Placenta Amnion
30	chr6:131315400-131316800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:131315400-131318000	Weak transcription	A549	lung
32	chr6:131315400-131318600	Weak transcription	Right Atrium	heart
33	chr6:131315400-131320000	Weak transcription	Right Ventricle	heart
34	chr6:131315600-131316600	Weak transcription	HUVEC	blood vessel
35	chr6:131315600-131316800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:131315600-131316800	Weak transcription	Fetal Intestine Large	intestine
37	chr6:131315600-131316800	Weak transcription	Gastric	stomach
38	chr6:131315600-131317400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:131315600-131317400	Weak transcription	Small Intestine	intestine
40	chr6:131315600-131318200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:131315600-131321800	Weak transcription	Pancreas	Pancrea
42	chr6:131315800-131317000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:131315800-131317000	Weak transcription	Brain Anterior Caudate	brain
44	chr6:131315800-131317200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:131315800-131317200	Weak transcription	HepG2	liver
46	chr6:131315800-131317400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:131315800-131317600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:131315800-131317800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr6:131315800-131317800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:131315800-131317800	Enhancers	K562	blood

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