Variant report

Variant	rs73300732
Chromosome Location	chr17:37686378-37686379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37618143..37619804-chr17:37685071..37687650,2	K562	blood:
2	chr17:37617575..37619643-chr17:37685798..37687650,2	K562	blood:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

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

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

rs_ID	r²[population]
rs16968748	0.81[EUR][1000 genomes]
rs17634758	1.00[EUR][1000 genomes]
rs55703686	0.81[EUR][1000 genomes]
rs55844295	1.00[EUR][1000 genomes]
rs57418114	0.83[EUR][1000 genomes]
rs57489670	0.81[EUR][1000 genomes]
rs58225361	0.81[EUR][1000 genomes]
rs58467767	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58850789	1.00[EUR][1000 genomes]
rs59329213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59743097	0.81[EUR][1000 genomes]
rs60333790	1.00[EUR][1000 genomes]
rs60506770	1.00[EUR][1000 genomes]
rs61749873	1.00[EUR][1000 genomes]
rs7226073	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73291305	0.81[EUR][1000 genomes]
rs73291310	0.81[EUR][1000 genomes]
rs73294950	1.00[EUR][1000 genomes]
rs73294997	1.00[EUR][1000 genomes]
rs73298796	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302557	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302588	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302596	0.86[AFR][1000 genomes]
rs73302601	1.00[EUR][1000 genomes]
rs73304305	0.83[EUR][1000 genomes]
rs73985210	1.00[EUR][1000 genomes]
rs9972899	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription 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 lncRNA	44 gene(s)	inside rSNPs	diseases
7	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37624000-37690600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37626600-37690600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:37634200-37688600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:37640400-37691000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:37642000-37689600	Strong transcription	Fetal Thymus	thymus
6	chr17:37643200-37688600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr17:37643400-37689000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr17:37644400-37688200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:37645000-37689000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:37645000-37689600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr17:37645600-37689200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:37646000-37688400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr17:37646400-37688200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:37646400-37688600	Strong transcription	Fetal Intestine Large	intestine
15	chr17:37646400-37689800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:37646600-37687200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:37646600-37688200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:37646600-37688800	Strong transcription	Liver	Liver
19	chr17:37646600-37689600	Strong transcription	Dnd41	blood
20	chr17:37646600-37690200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:37646800-37688200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr17:37646800-37688600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:37646800-37688600	Strong transcription	Placenta	Placenta
24	chr17:37646800-37689000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr17:37646800-37689000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:37646800-37689000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr17:37646800-37689200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:37646800-37689200	Strong transcription	HepG2	liver
29	chr17:37646800-37690000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:37653800-37688400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr17:37655400-37689200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:37655600-37689600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr17:37655600-37689800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr17:37656000-37688800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr17:37657400-37689200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr17:37658000-37687000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr17:37659200-37689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr17:37660600-37704400	Weak transcription	Stomach Mucosa	stomach
39	chr17:37663800-37688400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr17:37664000-37689000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:37664400-37689000	Strong transcription	Fetal Muscle Leg	muscle
42	chr17:37665200-37690000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr17:37667200-37687400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:37667600-37688400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr17:37669600-37687800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:37670000-37686800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr17:37670000-37689600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:37672000-37687800	Strong transcription	Left Ventricle	heart
49	chr17:37672000-37688400	Strong transcription	Thymus	Thymus
50	chr17:37672800-37688000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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