Variant report

Variant	rs16956991
Chromosome Location	chr15:42958767-42958768
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42957477..42963934-chr15:42964860..42973083,9	K562	blood:

Variant related genes	Relation type
ENSG00000159433	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10220713	1.00[EUR][1000 genomes]
rs10220718	1.00[EUR][1000 genomes]
rs10220726	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs10220875	1.00[EUR][1000 genomes]
rs11504666	1.00[EUR][1000 genomes]
rs1317628	1.00[EUR][1000 genomes]
rs13379871	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs13380157	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs13380301	1.00[EUR][1000 genomes]
rs16957002	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16957125	1.00[EUR][1000 genomes]
rs16957138	1.00[EUR][1000 genomes]
rs16957164	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs16957185	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs16957187	1.00[EUR][1000 genomes]
rs16957201	1.00[EUR][1000 genomes]
rs16973395	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs1877137	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877138	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28402077	1.00[EUR][1000 genomes]
rs35584827	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56894749	1.00[EUR][1000 genomes]
rs60789298	1.00[EUR][1000 genomes]
rs60832391	1.00[EUR][1000 genomes]
rs60881935	1.00[EUR][1000 genomes]
rs61682243	1.00[EUR][1000 genomes]
rs67420749	1.00[AMR][1000 genomes]
rs7165249	1.00[EUR][1000 genomes]
rs7172064	1.00[EUR][1000 genomes]
rs7174661	1.00[EUR][1000 genomes]
rs8032994	1.00[EUR][1000 genomes]
rs9806161	1.00[EUR][1000 genomes]
rs9806313	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42898000-42967800	Weak transcription	Fetal Intestine Small	intestine
2	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
3	chr15:42909600-42966400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:42925200-42966000	Weak transcription	NH-A	brain
5	chr15:42925200-42966800	Weak transcription	NHLF	lung
6	chr15:42925600-42961000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:42928200-42973600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:42928200-42974000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:42930600-42964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:42931200-42963400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:42931800-42968000	Weak transcription	HSMM	muscle
12	chr15:42932200-42966200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr15:42932400-42960000	Weak transcription	Primary T cells from cord blood	blood
14	chr15:42939200-42961200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:42940400-42967800	Weak transcription	HepG2	liver
16	chr15:42942800-42967200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:42942800-42973600	Weak transcription	Psoas Muscle	Psoas
18	chr15:42945200-42973400	Weak transcription	Thymus	Thymus
19	chr15:42945800-42960800	Weak transcription	GM12878-XiMat	blood
20	chr15:42947000-42964400	Weak transcription	Spleen	Spleen
21	chr15:42948600-42961200	Weak transcription	HSMMtube	muscle
22	chr15:42949800-42999200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:42950000-42969400	Weak transcription	K562	blood
24	chr15:42950200-42963200	Weak transcription	Fetal Heart	heart
25	chr15:42950400-42990200	Strong transcription	Fetal Stomach	stomach
26	chr15:42951000-42995000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr15:42952200-42973400	Weak transcription	Gastric	stomach
28	chr15:42952400-42970800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr15:42952600-42979000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:42952600-42995600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:42952800-42959000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:42952800-42961400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:42952800-42967000	Weak transcription	Right Ventricle	heart
34	chr15:42952800-42996000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:42953000-42958800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:42953200-42970000	Strong transcription	Adipose Nuclei	Adipose
37	chr15:42953200-42970200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr15:42953400-42959800	Strong transcription	Ovary	ovary
39	chr15:42953400-42961800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr15:42953400-42992200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:42953600-42963000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:42953600-42963000	Weak transcription	NHEK	skin
43	chr15:42953600-42967800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:42954000-42960800	Weak transcription	Fetal Intestine Large	intestine
45	chr15:42954000-42970000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:42954200-42973600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:42954400-42976200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:42954600-42958800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:42954600-42986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr15:42954800-42962800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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