Variant report

Variant	rs28405247
Chromosome Location	chr6:34192518-34192519
allele	C/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:6976303..6977166-chr6:34191919..34192632,2	Hela-S3	cervix:
2	chr6:34191402..34195529-chr6:34392087..34394261,4	MCF-7	breast:
3	chr6:34162948..34164566-chr6:34191693..34193324,2	MCF-7	breast:
4	chr6:34163985..34165499-chr6:34190823..34193399,2	MCF-7	breast:
5	chr6:34191835..34193562-chr6:34195845..34198625,2	MCF-7	breast:
6	chr6:34127390..34129450-chr6:34190311..34192689,2	MCF-7	breast:
7	chr6:34191327..34194039-chr6:34200124..34202308,2	MCF-7	breast:
8	chr6:34191465..34193341-chr6:34208084..34210074,2	MCF-7	breast:
9	chr6:34190794..34193339-chr6:34210453..34212412,2	MCF-7	breast:
10	chr6:34190283..34196950-chr6:34202449..34206308,21	MCF-7	breast:
11	chr6:34190610..34193435-chr6:34214728..34218107,4	MCF-7	breast:
12	chr6:34190218..34193662-chr6:34359296..34361712,5	MCF-7	breast:
13	chr6:34170593..34173037-chr6:34191454..34193047,2	MCF-7	breast:
14	chr6:34167257..34169586-chr6:34191240..34193285,2	K562	blood:
15	chr6:34105117..34107025-chr6:34191466..34193901,2	K562	blood:
16	chr6:34190995..34193306-chr6:34193856..34195513,2	MCF-7	breast:
17	chr6:34161256..34167016-chr6:34189422..34193988,6	K562	blood:
18	chr6:34191468..34193881-chr6:34392359..34395019,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124614	Chromatin interaction
ENSG00000111669	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000186577	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3798539	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6940209	1.00[AMR][1000 genomes]
rs9461967	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462900	chr6:33932442-34195011	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv602843	chr6:33932442-34195011	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv462902	chr6:34056726-34195011	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv602862	chr6:34056726-34195011	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	esv1816380	chr6:34110880-34206718	Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
10	nsv885782	chr6:34187206-34209516	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv885783	chr6:34187206-34209844	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34190800-34192800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:34191000-34192600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:34191000-34192600	Active TSS	Rectal Smooth Muscle	rectum
4	chr6:34191200-34192600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:34191200-34192600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:34191200-34192600	Enhancers	Fetal Heart	heart
7	chr6:34191200-34192600	Flanking Active TSS	Dnd41	blood
8	chr6:34191400-34192800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:34191600-34192600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:34191600-34192600	Active TSS	Brain Angular Gyrus	brain
11	chr6:34191600-34192600	Active TSS	Brain Anterior Caudate	brain
12	chr6:34191600-34192600	Active TSS	Colon Smooth Muscle	Colon
13	chr6:34191800-34192600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:34191800-34192600	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr6:34192000-34192600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr6:34192000-34192600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr6:34192000-34192600	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr6:34192000-34192600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr6:34192000-34192600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr6:34192000-34192600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:34192000-34192600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:34192000-34192600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr6:34192000-34192600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:34192000-34192600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr6:34192000-34192600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr6:34192000-34192600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr6:34192000-34192600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:34192000-34192600	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr6:34192000-34192600	Flanking Active TSS	Stomach Mucosa	stomach
30	chr6:34192000-34192600	Flanking Active TSS	NHEK	skin
31	chr6:34192000-34192800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr6:34192200-34192600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:34192200-34192600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:34192200-34192600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:34192200-34192600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr6:34192200-34192600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:34192200-34192600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr6:34192200-34192600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr6:34192200-34192600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr6:34192200-34192600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:34192200-34192600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:34192200-34192600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:34192200-34192600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr6:34192200-34192600	Flanking Active TSS	Liver	Liver
45	chr6:34192200-34192600	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr6:34192200-34192600	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr6:34192200-34192600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr6:34192200-34192600	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr6:34192200-34192600	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr6:34192200-34192600	Flanking Active TSS	Fetal Muscle Leg	muscle

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