Variant report

Variant	rs28780110
Chromosome Location	chr6:30719578-30719579
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30718958..30721409-chr6:30812435..30814738,2	MCF-7	breast:
2	chr6:30703666..30722133-chr6:30776009..30801352,184	MCF-7	breast:
3	chr6:30719058..30719988-chr6:30758381..30759373,17	MCF-7	breast:
4	chr6:30719031..30719983-chr6:30772608..30773489,5	MCF-7	breast:
5	chr6:30718989..30721292-chr6:30772340..30774126,2	MCF-7	breast:
6	chr6:30717879..30721732-chr6:30850020..30854415,6	MCF-7	breast:
7	chr6:30719312..30720395-chr6:30766753..30767647,3	MCF-7	breast:
8	chr17:56716768..56717863-chr6:30719351..30720007,3	MCF-7	breast:
9	chr6:30718992..30720238-chr6:30758380..30759436,11	MCF-7	breast:
10	chr6:30719389..30720481-chr6:30850176..30850986,3	MCF-7	breast:
11	chr6:30719096..30721371-chr6:30880176..30882987,2	MCF-7	breast:
12	chr6:30719066..30719985-chr6:30790233..30791190,3	MCF-7	breast:
13	chr6:30582929..30584442-chr6:30719017..30721240,2	MCF-7	breast:
14	chr6:30707556..30708074-chr6:30719408..30719970,2	MCF-7	breast:
15	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
16	chr6:30703055..30723531-chr6:30783853..30800217,151	MCF-7	breast:
17	chr6:30719384..30720067-chr6:30747678..30748455,3	MCF-7	breast:
18	chr6:30719044..30719988-chr6:30758381..30759373,30	MCF-7	breast:
19	chr6:30707520..30708411-chr6:30719042..30719631,2	MCF-7	breast:
20	chr6:30719035..30719781-chr6:30758483..30759107,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214894	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000222894	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28986316	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
6	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
8	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
9	nsv884101	chr6:30695920-30733121	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	163 gene(s)	inside rSNPs	diseases
10	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
11	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
12	nsv884102	chr6:30706013-30720567	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases
13	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30712200-30719800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:30712600-30719600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:30712600-30719600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:30712600-30724000	Enhancers	HMEC	breast
5	chr6:30712800-30720000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:30714200-30721200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:30714800-30719600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:30715200-30719800	Enhancers	Fetal Intestine Small	intestine
9	chr6:30715200-30720000	Enhancers	Colonic Mucosa	Colon
10	chr6:30715200-30720800	Enhancers	Fetal Intestine Large	intestine
11	chr6:30715200-30722200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:30715600-30721600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:30716400-30719800	Weak transcription	Fetal Thymus	thymus
14	chr6:30716600-30721400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:30717000-30719800	Enhancers	Duodenum Mucosa	Duodenum
16	chr6:30717000-30719800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:30717000-30720000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:30717000-30724000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:30717200-30720600	Weak transcription	Aorta	Aorta
20	chr6:30717200-30721400	Enhancers	HUVEC	blood vessel
21	chr6:30717800-30719600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:30717800-30720000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:30717800-30721200	Enhancers	Stomach Mucosa	stomach
24	chr6:30717800-30725400	Weak transcription	Spleen	Spleen
25	chr6:30717800-30726800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:30718400-30719600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:30718400-30720800	Enhancers	HepG2	liver
28	chr6:30718600-30719800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:30718600-30719800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr6:30718600-30723600	Weak transcription	Liver	Liver
31	chr6:30718800-30719600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:30719000-30720600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr6:30719000-30721200	Enhancers	Fetal Muscle Leg	muscle
34	chr6:30719200-30719800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr6:30719200-30719800	Enhancers	Right Atrium	heart
36	chr6:30719200-30720000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:30719200-30720000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:30719200-30720000	Flanking Active TSS	Hela-S3	cervix
39	chr6:30719200-30720000	Flanking Active TSS	HSMMtube	muscle
40	chr6:30719200-30720600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:30719200-30720600	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr6:30719200-30721000	Enhancers	Fetal Muscle Trunk	muscle
43	chr6:30719200-30721000	Enhancers	K562	blood
44	chr6:30719200-30721200	Enhancers	Adipose Nuclei	Adipose
45	chr6:30719200-30721200	Enhancers	Placenta	Placenta
46	chr6:30719200-30721200	Enhancers	Left Ventricle	heart
47	chr6:30719200-30721400	Enhancers	Fetal Heart	heart
48	chr6:30719200-30721600	Enhancers	Colon Smooth Muscle	Colon
49	chr6:30719400-30719600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:30719400-30719600	Enhancers	Gastric	stomach

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