Variant report

Variant	rs28675041
Chromosome Location	chr6:34902039-34902040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34892877..34895013-chr6:34901039..34903046,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28803510	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35032786	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35078643	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4646937	1.00[ASN][1000 genomes]
rs4646945	0.90[ASN][1000 genomes]
rs6918976	1.00[AFR][1000 genomes]
rs6930932	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7739397	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7741166	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7748737	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7761573	1.00[AFR][1000 genomes];1.00[ASN][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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
2	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
3	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:34881400-34902800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:34885800-34902200	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:34885800-34902400	Weak transcription	Fetal Stomach	stomach
7	chr6:34886400-34902400	Weak transcription	Aorta	Aorta
8	chr6:34886400-34902600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
10	chr6:34887000-34902800	Weak transcription	Lung	lung
11	chr6:34887400-34902400	Weak transcription	Psoas Muscle	Psoas
12	chr6:34887600-34902600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:34888000-34902200	Weak transcription	Adipose Nuclei	Adipose
14	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
15	chr6:34894400-34902200	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:34894600-34902200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:34894600-34907200	Weak transcription	HepG2	liver
18	chr6:34895000-34907400	Weak transcription	HSMMtube	muscle
19	chr6:34895200-34902200	Weak transcription	NHEK	skin
20	chr6:34895400-34902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:34895800-34902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:34896000-34934600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:34896200-34902800	Weak transcription	Right Ventricle	heart
25	chr6:34896200-34907200	Weak transcription	Fetal Intestine Small	intestine
26	chr6:34896600-34902200	Weak transcription	Brain Anterior Caudate	brain
27	chr6:34896600-34902200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:34896600-34907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:34896600-34910600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:34896800-34902200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:34897000-34902400	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:34897800-34902600	Weak transcription	Stomach Mucosa	stomach
33	chr6:34898200-34902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:34898200-34908000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:34898800-34902200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:34901400-34903200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:34901600-34903000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:34901600-34903200	Enhancers	Ovary	ovary
39	chr6:34901600-34907600	Enhancers	Fetal Heart	heart
40	chr6:34901800-34903200	Enhancers	Left Ventricle	heart
41	chr6:34902000-34902200	Enhancers	Right Atrium	heart
42	chr6:34902000-34903200	Enhancers	Fetal Muscle Trunk	muscle

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