Variant report

Variant	rs73505647
Chromosome Location	chr7:140372161-140372162
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr7:140371834-140372184	U2OS	brain:	n/a	n/a
2	TBP	chr7:140372086-140372555	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr7:140372063-140373834	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
4	POLR2A	chr7:140371968-140372196	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFYB	chr7:140371994-140372209	K562	blood:	n/a	n/a
6	POLR2A	chr7:140372038-140372256	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr7:140372047-140372220	HepG2	liver:	n/a	n/a
8	CHD2	chr7:140371945-140372228	H1-hESC	embryonic stem cell:	n/a	n/a
9	WRNIP1	chr7:140372047-140372191	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
2	chr7:140371506..140376729-chr7:140377280..140380130,6	K562	blood:
3	chr7:140371233..140372859-chr7:140417535..140420248,2	MCF-7	breast:
4	chr7:140371560..140374067-chr7:140396511..140398663,2	K562	blood:
5	chr7:140371193..140374993-chr7:140376654..140380151,6	MCF-7	breast:
6	chr7:140358444..140360553-chr7:140370671..140372780,2	MCF-7	breast:
7	chr7:140366280..140367939-chr7:140371289..140372844,2	MCF-7	breast:
8	chr7:140370275..140375389-chr7:140393210..140401279,16	MCF-7	breast:

No data

Variant related genes	Relation type
ADCK2	TF binding region
ENSG00000090266	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000240889	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10241711	0.85[ASN][1000 genomes]
rs10260676	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1046515	0.89[ASN][1000 genomes]
rs1140034	0.88[ASN][1000 genomes]
rs12375245	0.92[ASN][1000 genomes]
rs17161666	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17161668	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1812162	0.85[AFR][1000 genomes]
rs2364393	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2364394	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2364395	0.88[ASN][1000 genomes]
rs2364396	0.81[ASN][1000 genomes]
rs28517771	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2907950	0.81[ASN][1000 genomes]
rs2930315	0.83[ASN][1000 genomes]
rs2930318	0.83[ASN][1000 genomes]
rs2930319	0.83[ASN][1000 genomes]
rs2930331	0.82[ASN][1000 genomes]
rs2968551	0.81[ASN][1000 genomes]
rs2968553	0.83[ASN][1000 genomes]
rs2968555	0.85[ASN][1000 genomes]
rs2968558	0.88[ASN][1000 genomes]
rs2968559	0.88[ASN][1000 genomes]
rs4624945	0.88[ASN][1000 genomes]
rs4725799	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4727011	0.88[ASN][1000 genomes]
rs4727021	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4727036	0.92[ASN][1000 genomes]
rs4727040	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4727041	0.89[ASN][1000 genomes]
rs4727053	0.87[ASN][1000 genomes]
rs6464937	0.88[ASN][1000 genomes]
rs6969779	0.87[ASN][1000 genomes]
rs73489531	0.83[AFR][1000 genomes]
rs73491672	0.90[ASN][1000 genomes]
rs73505645	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7792746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794857	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7809339	0.97[EUR][1000 genomes];0.87[ASN][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	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3373922	chr7:140371933-140374031	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140370600-140372200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:140371000-140372400	Weak transcription	NHLF	lung
3	chr7:140371600-140372200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:140371600-140372200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:140371600-140372200	Enhancers	Spleen	Spleen
6	chr7:140371600-140372200	Active TSS	HepG2	liver
7	chr7:140371600-140372400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:140371800-140372200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:140371800-140372200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:140371800-140372200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:140371800-140372200	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:140371800-140372200	Enhancers	Placenta	Placenta
13	chr7:140371800-140372200	Enhancers	Dnd41	blood
14	chr7:140371800-140372400	Enhancers	Fetal Heart	heart
15	chr7:140371800-140372400	Weak transcription	Ovary	ovary
16	chr7:140371800-140372400	Enhancers	Pancreas	Pancrea
17	chr7:140371800-140372400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr7:140371800-140372400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr7:140371800-140372400	Enhancers	Stomach Mucosa	stomach
20	chr7:140372000-140372200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:140372000-140372200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr7:140372000-140372200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:140372000-140372200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:140372000-140372200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:140372000-140372200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:140372000-140372200	Enhancers	Primary B cells from cord blood	blood
27	chr7:140372000-140372200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr7:140372000-140372200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr7:140372000-140372200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:140372000-140372200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:140372000-140372200	Enhancers	Adipose Nuclei	Adipose
32	chr7:140372000-140372200	Enhancers	Brain Germinal Matrix	brain
33	chr7:140372000-140372200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:140372000-140372200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:140372000-140372200	Enhancers	Duodenum Mucosa	Duodenum
36	chr7:140372000-140372200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr7:140372000-140372200	Enhancers	Fetal Brain Male	brain
38	chr7:140372000-140372200	Enhancers	Fetal Lung	lung
39	chr7:140372000-140372200	Enhancers	Fetal Muscle Leg	muscle
40	chr7:140372000-140372200	Enhancers	Fetal Stomach	stomach
41	chr7:140372000-140372200	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:140372000-140372200	Enhancers	Right Atrium	heart
43	chr7:140372000-140372200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:140372000-140372200	Enhancers	Stomach Smooth Muscle	stomach
45	chr7:140372000-140372200	Enhancers	GM12878-XiMat	blood
46	chr7:140372000-140372200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr7:140372000-140372400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
48	chr7:140372000-140372400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:140372000-140372400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:140372000-140372400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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