Variant report

Variant	rs28744185
Chromosome Location	chr6:30783530-30783531
allele	A/C/T
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30748021..30750759-chr6:30781042..30784115,3	MCF-7	breast:
2	chr6:30707810..30715390-chr6:30779530..30784762,15	K562	blood:
3	chr6:30781714..30783791-chr6:30982862..30984438,2	K562	blood:
4	chr6:30757568..30759864-chr6:30782020..30783949,2	K562	blood:
5	chr6:30782149..30783848-chr6:30788583..30790085,2	MCF-7	breast:
6	chr6:30742999..30744721-chr6:30782116..30783840,2	MCF-7	breast:
7	chr6:30703666..30722133-chr6:30776009..30801352,184	MCF-7	breast:
8	chr6:30708338..30713459-chr6:30777538..30783709,13	K562	blood:
9	chr6:30522929..30524669-chr6:30781781..30783555,2	K562	blood:
10	chr6:30779954..30784896-chr6:30785156..30789787,6	K562	blood:
11	chr6:30687466..30692169-chr6:30775918..30784078,7	K562	blood:
12	chr6:30782254..30784176-chr6:30785008..30786775,3	K562	blood:
13	chr6:30782136..30784193-chr6:30786260..30788074,2	MCF-7	breast:
14	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:
15	chr6:30781901..30784193-chr6:30851242..30852873,2	K562	blood:
16	chr6:30734312..30736024-chr6:30780945..30783731,2	K562	blood:
17	chr6:30780781..30784942-chr6:30792103..30795715,5	K562	blood:
18	chr6:30753093..30755671-chr6:30782246..30783854,2	K562	blood:
19	chr6:30687402..30688966-chr6:30782150..30783653,2	K562	blood:
20	chr6:30706744..30716171-chr6:30774931..30783832,28	MCF-7	breast:
21	chr6:30781732..30783856-chr6:30842291..30844070,2	K562	blood:
22	chr6:30782463..30785356-chr6:30842296..30844598,2	K562	blood:
23	chr6:30716968..30722090-chr6:30774929..30783584,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272273	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000228022	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000201988	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10947100	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10947101	0.80[AFR][1000 genomes]
rs10947102	0.80[AFR][1000 genomes]
rs12528843	0.80[AFR][1000 genomes]
rs28744190	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4483030	0.85[AMR][1000 genomes]
rs4711234	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4713380	0.80[AFR][1000 genomes]
rs4713381	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713382	0.80[AFR][1000 genomes]
rs4713383	0.80[AFR][1000 genomes]
rs9295924	0.80[AFR][1000 genomes]
rs9378148	0.80[AFR][1000 genomes]
rs9378224	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9380193	0.80[AFR][1000 genomes]
rs9380194	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9380195	0.80[AFR][1000 genomes]
rs9380198	0.80[AFR][1000 genomes]
rs9391693	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9391695	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9391696	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9391810	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9391811	0.90[AMR][1000 genomes]
rs9391812	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9404970	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9404974	0.80[AFR][1000 genomes]
rs9404975	0.80[AFR][1000 genomes]
rs9405014	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
6	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
7	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
8	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
9	nsv884105	chr6:30775579-30786676	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv884106	chr6:30775579-30787323	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv884107	chr6:30776483-30787323	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30779000-30784800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:30779000-30794800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30779000-30795800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:30779200-30790000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:30780800-30783600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:30781200-30786400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:30782000-30787200	Weak transcription	Thymus	Thymus
8	chr6:30782000-30796000	Weak transcription	Pancreas	Pancrea
9	chr6:30782000-30797000	Weak transcription	Gastric	stomach
10	chr6:30782200-30787400	Weak transcription	Left Ventricle	heart
11	chr6:30782200-30787400	Weak transcription	Lung	lung
12	chr6:30782200-30787600	Weak transcription	Colonic Mucosa	Colon
13	chr6:30782200-30789600	Weak transcription	Brain Substantia Nigra	brain
14	chr6:30782400-30783800	Enhancers	HepG2	liver
15	chr6:30782400-30790000	Weak transcription	Primary T cells from cord blood	blood
16	chr6:30782600-30783600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr6:30782600-30785000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:30782600-30785200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:30782600-30785400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:30782600-30785800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:30782600-30785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:30782600-30785800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:30782600-30786200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:30782600-30786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:30782600-30786400	Weak transcription	Fetal Heart	heart
26	chr6:30782600-30786400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:30782600-30786400	Weak transcription	Stomach Mucosa	stomach
28	chr6:30782600-30786400	Weak transcription	HSMMtube	muscle
29	chr6:30782600-30786400	Weak transcription	NHDF-Ad	bronchial
30	chr6:30782600-30786400	Weak transcription	NHLF	lung
31	chr6:30782600-30787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:30782600-30787400	Weak transcription	Esophagus	oesophagus
33	chr6:30782600-30787400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:30782600-30787400	Weak transcription	Right Atrium	heart
35	chr6:30782600-30787600	Weak transcription	Small Intestine	intestine
36	chr6:30782600-30787800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:30782600-30787800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:30782600-30787800	Weak transcription	Spleen	Spleen
39	chr6:30782600-30788000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:30782600-30788200	Weak transcription	Fetal Intestine Small	intestine
41	chr6:30782600-30789400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:30782600-30789600	Weak transcription	Fetal Intestine Large	intestine
43	chr6:30782600-30789800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:30782800-30784400	Weak transcription	GM12878-XiMat	blood
45	chr6:30782800-30784800	Weak transcription	Placenta	Placenta
46	chr6:30782800-30785400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:30782800-30785400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:30782800-30785600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:30782800-30785600	Weak transcription	HMEC	breast
50	chr6:30782800-30786000	Weak transcription	NH-A	brain

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