Variant report

Variant	rs2076172
Chromosome Location	chr6:35436925-35436926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66508673..66509254-chr6:35436145..35436972,2	Hela-S3	cervix:
2	chr12:54366608..54368151-chr6:35435475..35437868,2	MCF-7	breast:
3	chr6:35226066..35229330-chr6:35434346..35438215,4	K562	blood:
4	chr6:35259383..35261485-chr6:35435927..35437799,2	MCF-7	breast:
5	chr6:35435945..35437939-chr6:35694170..35698146,4	MCF-7	breast:
6	chr20:46247769..46250041-chr6:35436696..35439352,2	MCF-7	breast:
7	chr6:34855314..34856910-chr6:35435686..35437650,2	MCF-7	breast:
8	chr6:35308405..35313609-chr6:35434054..35440248,12	K562	blood:
9	chr6:35260730..35269335-chr6:35433870..35444063,22	MCF-7	breast:
10	chr6:35434857..35438603-chr6:35692996..35696802,4	K562	blood:
11	chr16:75498144..75498858-chr6:35436601..35437554,2	HCT-116	colon:
12	chr6:35436322..35437059-chr9:75766687..75767366,2	Hela-S3	cervix:
13	chr6:26045293..26047313-chr6:35435617..35437589,2	MCF-7	breast:
14	chr6:35270811..35278072-chr6:35434777..35439344,8	MCF-7	breast:
15	chr6:35308378..35313609-chr6:35433550..35439145,12	K562	blood:
16	chr6:35309215..35314259-chr6:35432456..35439068,10	MCF-7	breast:
17	chr6:35415017..35416617-chr6:35436362..35437925,2	MCF-7	breast:
18	chr6:35265112..35265974-chr6:35435522..35436961,5	MCF-7	breast:
19	chr6:35264065..35266185-chr6:35435418..35437067,2	MCF-7	breast:
20	chr11:2397606..2400001-chr6:35434655..35437647,2	K562	blood:
21	chr6:35434775..35437842-chr6:35701549..35705876,5	MCF-7	breast:
22	chr6:35418617..35424875-chr6:35434196..35438070,12	MCF-7	breast:
23	chr6:35226330..35228825-chr6:35434969..35437843,3	MCF-7	breast:
24	chr6:35360426..35363519-chr6:35436261..35438354,3	K562	blood:
25	chr6:35257372..35267692-chr6:35433856..35438688,25	K562	blood:
26	chr6:35435616..35437664-chrX:153627963..153630833,2	K562	blood:
27	chr6:35415818..35424678-chr6:35432486..35440672,36	K562	blood:
28	chr6:35433822..35437754-chr6:35703135..35706478,6	K562	blood:
29	chr6:35257372..35267871-chr6:35433266..35439192,25	K562	blood:
30	chr6:35436419..35438425-chr6:35888772..35891148,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110651	Chromatin interaction
ENSG00000196532	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000108946	Chromatin interaction
ENSG00000157343	Chromatin interaction
ENSG00000096063	Chromatin interaction
ENSG00000135046	Chromatin interaction
ENSG00000123388	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000238184	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000023892	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000112039	Chromatin interaction
ENSG00000112033	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000232909	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10947550	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12525930	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13214239	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2395626	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]

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	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
3	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
4	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
6	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
7	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2076172	RP3-340B19.2	cis	Adipose Subcutaneous	GTEx
rs2076172	RPL10A	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35435200-35440200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:35435400-35437000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:35435400-35437000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr6:35435400-35437000	Active TSS	Thymus	Thymus
5	chr6:35435400-35437200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr6:35435600-35437200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:35435600-35437200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:35435600-35437200	Active TSS	Primary T cells from cord blood	blood
9	chr6:35435600-35437200	Active TSS	Brain Hippocampus Middle	brain
10	chr6:35435600-35437200	Active TSS	Brain Substantia Nigra	brain
11	chr6:35435600-35437400	Active TSS	Colon Smooth Muscle	Colon
12	chr6:35435600-35437400	Active TSS	Left Ventricle	heart
13	chr6:35435600-35437400	Active TSS	Psoas Muscle	Psoas
14	chr6:35435600-35437400	Active TSS	Rectal Smooth Muscle	rectum
15	chr6:35435600-35437400	Active TSS	Right Ventricle	heart
16	chr6:35435600-35437600	Active TSS	Aorta	Aorta
17	chr6:35435600-35437600	Active TSS	Gastric	stomach
18	chr6:35435600-35437600	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr6:35435600-35437600	Active TSS	HSMMtube	muscle
20	chr6:35435600-35437600	Active TSS	NHDF-Ad	bronchial
21	chr6:35435600-35437800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:35435600-35437800	Active TSS	Ovary	ovary
23	chr6:35435600-35437800	Active TSS	Small Intestine	intestine
24	chr6:35435600-35438800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:35435800-35437000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr6:35435800-35437000	Active TSS	Liver	Liver
27	chr6:35435800-35437000	Active TSS	Brain Anterior Caudate	brain
28	chr6:35435800-35437000	Active TSS	Hela-S3	cervix
29	chr6:35435800-35437200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:35435800-35437200	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr6:35435800-35437200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:35435800-35437200	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr6:35435800-35437200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr6:35435800-35437400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:35435800-35437400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:35435800-35437400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:35435800-35437400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:35435800-35437400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:35435800-35437400	Active TSS	Brain Cingulate Gyrus	brain
40	chr6:35435800-35437400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr6:35435800-35437400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:35435800-35437400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr6:35435800-35437400	Active TSS	Fetal Kidney	kidney
44	chr6:35435800-35437400	Active TSS	Lung	lung
45	chr6:35435800-35437400	Active TSS	Pancreas	Pancrea
46	chr6:35435800-35437400	Active TSS	GM12878-XiMat	blood
47	chr6:35435800-35437600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:35435800-35437600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:35435800-35437600	Active TSS	Fetal Heart	heart
50	chr6:35435800-35437600	Active TSS	Placenta Amnion	Placenta Amnion

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