Variant report

Variant	rs72811653
Chromosome Location	chr2:97573742-97573743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97559950..97563991-chr2:97572149..97576823,4	K562	blood:
2	chr2:97572260..97573823-chr2:97580585..97582287,2	MCF-7	breast:
3	chr2:97568240..97570833-chr2:97573049..97574563,2	K562	blood:
4	chr2:97534791..97536371-chr2:97573081..97574956,2	K562	blood:
5	chr2:97572989..97575814-chr2:97581255..97584534,3	K562	blood:
6	chr2:97572989..97575814-chr2:97581720..97584534,3	K562	blood:
7	chr2:97481675..97483983-chr2:97572049..97574143,2	MCF-7	breast:
8	chr2:97534484..97535272-chr2:97572993..97573776,2	MCF-7	breast:
9	chr2:97533515..97536291-chr2:97573456..97575907,2	K562	blood:
10	chr2:97572632..97575087-chr2:97615187..97616710,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168763	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10179546	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11889101	0.97[ASN][1000 genomes]
rs11900466	0.97[ASN][1000 genomes]
rs17119655	1.00[ASN][1000 genomes]
rs3903548	0.97[ASN][1000 genomes]
rs57397886	0.97[ASN][1000 genomes]
rs57675226	0.84[EUR][1000 genomes]
rs58232717	0.97[ASN][1000 genomes]
rs59660613	1.00[ASN][1000 genomes]
rs60063645	0.95[ASN][1000 genomes]
rs62152871	0.81[EUR][1000 genomes]
rs62152900	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62152902	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62152908	1.00[ASN][1000 genomes]
rs62152910	1.00[ASN][1000 genomes]
rs6708171	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6717064	1.00[ASN][1000 genomes]
rs6734326	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6734673	1.00[ASN][1000 genomes]
rs6746020	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72811663	0.97[ASN][1000 genomes]
rs72811667	0.97[ASN][1000 genomes]
rs7591775	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72811653	FAM178B	cis	Artery Tibial	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97563400-97575200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:97565000-97575000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:97570000-97573800	Enhancers	Fetal Muscle Leg	muscle
4	chr2:97570000-97575000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:97570000-97575400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:97570200-97575000	Weak transcription	Primary T cells from cord blood	blood
7	chr2:97571800-97574400	Enhancers	Fetal Stomach	stomach
8	chr2:97572000-97573800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:97572000-97573800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:97572000-97573800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:97572000-97573800	Enhancers	Fetal Heart	heart
12	chr2:97572000-97574000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:97572000-97574000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:97572000-97574000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:97572000-97574000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:97572000-97574000	Enhancers	Fetal Lung	lung
17	chr2:97572000-97574000	Enhancers	Placenta	Placenta
18	chr2:97572000-97574400	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr2:97572000-97576000	Enhancers	Brain Substantia Nigra	brain
20	chr2:97572000-97576200	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:97572200-97573800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:97572200-97573800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:97572200-97573800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:97572200-97573800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr2:97572200-97573800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr2:97572200-97573800	Enhancers	Fetal Intestine Small	intestine
27	chr2:97572200-97573800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr2:97572200-97573800	Enhancers	Stomach Mucosa	stomach
29	chr2:97572200-97574000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:97572200-97574000	Enhancers	Esophagus	oesophagus
31	chr2:97572200-97574000	Enhancers	Ovary	ovary
32	chr2:97572200-97574000	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr2:97572200-97574000	Enhancers	Right Atrium	heart
34	chr2:97572200-97574200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:97572200-97574200	Enhancers	Brain Hippocampus Middle	brain
36	chr2:97572200-97574200	Enhancers	Pancreas	Pancrea
37	chr2:97572200-97574400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:97572200-97574400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:97572200-97575800	Enhancers	Spleen	Spleen
40	chr2:97572200-97576000	Enhancers	Brain Angular Gyrus	brain
41	chr2:97572200-97576400	Enhancers	Left Ventricle	heart
42	chr2:97572400-97573800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr2:97572400-97574000	Enhancers	Brain Anterior Caudate	brain
44	chr2:97572400-97574000	Enhancers	Fetal Thymus	thymus
45	chr2:97572400-97579200	Enhancers	Fetal Brain Male	brain
46	chr2:97572600-97574000	Enhancers	Lung	lung
47	chr2:97572800-97574000	Enhancers	Gastric	stomach
48	chr2:97572800-97574000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr2:97573000-97573800	Enhancers	NHDF-Ad	bronchial
50	chr2:97573200-97573800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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