Variant report

Variant	rs72967709
Chromosome Location	chr4:160194144-160194145
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:160184218..160186779-chr4:160192585..160194207,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10034409	1.00[EUR][1000 genomes]
rs11946474	1.00[EUR][1000 genomes]
rs2464794	1.00[EUR][1000 genomes]
rs28755457	1.00[EUR][1000 genomes]
rs28883584	1.00[EUR][1000 genomes]
rs2952610	1.00[EUR][1000 genomes]
rs57147050	1.00[EUR][1000 genomes]
rs57299850	1.00[EUR][1000 genomes]
rs57659423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57696778	1.00[EUR][1000 genomes]
rs60646338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61498926	1.00[EUR][1000 genomes]
rs72965979	1.00[EUR][1000 genomes]
rs72967707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967780	1.00[EUR][1000 genomes]
rs72967798	1.00[EUR][1000 genomes]
rs7664778	1.00[EUR][1000 genomes]
rs7679267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7691182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9685433	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830129	chr4:160061694-160270760	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1022771	chr4:160188801-160324683	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr4:160149400-160216800	Weak transcription	Small Intestine	intestine
2	chr4:160173200-160217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:160173400-160194800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:160174000-160203400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:160186000-160196400	Enhancers	Fetal Heart	heart
6	chr4:160186800-160225400	Weak transcription	Primary B cells from cord blood	blood
7	chr4:160188200-160201800	Weak transcription	Stomach Mucosa	stomach
8	chr4:160188400-160194200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:160188800-160195000	Weak transcription	Lung	lung
10	chr4:160188800-160196000	Weak transcription	Spleen	Spleen
11	chr4:160188800-160205200	Weak transcription	Ovary	ovary
12	chr4:160189000-160194200	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:160189000-160194200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:160189000-160199800	Weak transcription	Fetal Intestine Small	intestine
15	chr4:160189400-160201000	Weak transcription	Pancreas	Pancrea
16	chr4:160189400-160203000	Weak transcription	Psoas Muscle	Psoas
17	chr4:160189400-160235200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:160190200-160194200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:160190200-160195600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:160190200-160205000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:160190400-160195000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:160190400-160203600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:160190600-160194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:160190600-160203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:160190600-160205000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:160190800-160195200	Enhancers	Liver	Liver
27	chr4:160191200-160195000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:160191200-160203000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:160191400-160195000	Weak transcription	Right Atrium	heart
30	chr4:160192000-160194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:160192000-160196200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:160192200-160197400	Enhancers	HUVEC	blood vessel
33	chr4:160192400-160196200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:160192600-160194400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:160192600-160194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:160192600-160195600	Enhancers	Brain Angular Gyrus	brain
37	chr4:160192600-160196000	Enhancers	HMEC	breast
38	chr4:160192600-160196400	Enhancers	NHEK	skin
39	chr4:160192600-160196800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:160192800-160194400	Enhancers	Primary T cells from cord blood	blood
41	chr4:160192800-160194400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:160192800-160194400	Enhancers	Fetal Stomach	stomach
43	chr4:160192800-160194600	Enhancers	Brain Germinal Matrix	brain
44	chr4:160192800-160194600	Enhancers	Fetal Brain Female	brain
45	chr4:160192800-160194600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr4:160192800-160194600	Enhancers	NHLF	lung
47	chr4:160192800-160194800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:160192800-160194800	Enhancers	Fetal Kidney	kidney
49	chr4:160192800-160195200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:160192800-160195200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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