Variant report

Variant	rs7224648
Chromosome Location	chr17:46194799-46194800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46188096..46189774-chr17:46193080..46195986,2	K562	blood:
2	chr17:46184571..46186273-chr17:46193637..46195242,2	MCF-7	breast:
3	chr17:46194453..46197293-chr17:46201950..46204423,2	MCF-7	breast:
4	chr17:46186937..46189774-chr17:46193080..46195996,3	K562	blood:

Variant related genes	Relation type
ENSG00000002919	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11079811	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11079812	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12449324	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12449529	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12601412	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12948653	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12953085	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1316643	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17619103	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2107308	0.81[EUR][1000 genomes]
rs34130316	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34449497	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35371915	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35999311	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7215582	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7221416	0.84[AMR][1000 genomes]
rs8065464	0.81[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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
4	esv1007058	chr17:46188741-46200367	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46185800-46195800	Weak transcription	Ovary	ovary
2	chr17:46186000-46195200	Weak transcription	Aorta	Aorta
3	chr17:46186000-46196200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr17:46186000-46198600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:46186200-46195000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:46186200-46195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:46186200-46196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:46186200-46198600	Weak transcription	Fetal Brain Male	brain
9	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:46186400-46194800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr17:46186400-46195000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:46186400-46195000	Weak transcription	HSMM	muscle
13	chr17:46186400-46195000	Weak transcription	NHDF-Ad	bronchial
14	chr17:46186400-46195200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:46186400-46195400	Weak transcription	Brain Angular Gyrus	brain
16	chr17:46186400-46195400	Weak transcription	NH-A	brain
17	chr17:46186400-46196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:46186400-46196000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:46186400-46198600	Weak transcription	Small Intestine	intestine
20	chr17:46186400-46198800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr17:46186600-46195000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:46186600-46195200	Weak transcription	Stomach Mucosa	stomach
23	chr17:46186600-46196000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:46187600-46198400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr17:46188200-46195000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr17:46188200-46201200	Strong transcription	Fetal Intestine Small	intestine
27	chr17:46188200-46207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr17:46188400-46195000	Weak transcription	Brain Substantia Nigra	brain
29	chr17:46188400-46201400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:46188600-46194800	Weak transcription	HUVEC	blood vessel
31	chr17:46188600-46195000	Weak transcription	Pancreas	Pancrea
32	chr17:46188600-46196200	Weak transcription	Psoas Muscle	Psoas
33	chr17:46189000-46202600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:46189200-46197800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:46189200-46199000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr17:46189400-46198600	Strong transcription	Brain Anterior Caudate	brain
37	chr17:46189400-46204200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:46189600-46198800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:46189600-46200600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:46189600-46201800	Strong transcription	Fetal Muscle Leg	muscle
41	chr17:46189800-46202000	Strong transcription	Fetal Stomach	stomach
42	chr17:46190000-46201400	Strong transcription	Lung	lung
43	chr17:46190000-46204800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:46190200-46201600	Strong transcription	Liver	Liver
45	chr17:46190400-46196800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:46190400-46200600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr17:46190400-46201600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:46190400-46205000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr17:46190600-46194800	Weak transcription	Colonic Mucosa	Colon
50	chr17:46190800-46196200	Weak transcription	Fetal Kidney	kidney

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