Variant report

Variant	rs6712925
Chromosome Location	chr2:73319237-73319238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr2:73319226-73319600	HepG2	liver:	n/a	n/a
2	SP1	chr2:73319190-73319658	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73313555..73317164-chr2:73319112..73322422,3	K562	blood:
2	chr2:73317548..73319576-chr2:73341568..73344564,2	MCF-7	breast:
3	chr2:73319149..73321634-chr2:73337430..73340462,3	K562	blood:
4	chr2:73308514..73310297-chr2:73318745..73320278,2	MCF-7	breast:

Variant related genes	Relation type
RAB11FIP5	TF binding region
ENSG00000272702	Chromatin interaction
ENSG00000135631	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10166220	0.83[AMR][1000 genomes]
rs10167566	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10174548	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10178944	0.83[AMR][1000 genomes]
rs10180720	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10180995	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10190861	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10192077	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10203608	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1036512	0.82[AMR][1000 genomes]
rs1046186	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10865396	0.86[ASN][1000 genomes]
rs11126389	0.86[ASN][1000 genomes]
rs11686557	0.92[ASN][1000 genomes]
rs11885522	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12104691	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12614059	0.89[ASN][1000 genomes]
rs13018842	0.86[ASN][1000 genomes]
rs13385994	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13390072	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13391532	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13393567	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13400920	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13400948	0.94[ASN][1000 genomes]
rs13403757	0.94[ASN][1000 genomes]
rs13403781	0.93[ASN][1000 genomes]
rs13407719	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13416407	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13427947	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1430349	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1430350	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1430351	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17008631	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1864488	0.94[ASN][1000 genomes]
rs1992133	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35131031	0.82[ASN][1000 genomes]
rs3813222	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3813223	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3901273	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4144837	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4591365	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55894650	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55974516	0.82[AMR][1000 genomes]
rs57536428	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57701326	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57726945	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57937746	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61161134	0.82[AMR][1000 genomes]
rs6546797	0.81[AMR][1000 genomes]
rs6546800	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6546801	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6710739	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6710755	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6713655	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6719333	0.82[AMR][1000 genomes]
rs6720817	0.94[ASN][1000 genomes]
rs6727269	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6727919	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729266	0.95[ASN][1000 genomes]
rs6732369	0.81[AMR][1000 genomes]
rs6736153	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6749237	0.94[ASN][1000 genomes]
rs6754779	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6754858	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs727470	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs727471	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7557173	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7559074	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7559340	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7566904	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7570876	0.81[AMR][1000 genomes]
rs7593322	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7599657	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7602651	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs891432	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs891433	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309471	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73299600-73319400	Weak transcription	K562	blood
2	chr2:73303000-73328600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:73303200-73320600	Weak transcription	Psoas Muscle	Psoas
4	chr2:73303400-73320000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:73309200-73319400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:73313200-73320000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:73313200-73327200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:73315600-73319600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:73315600-73330400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:73315600-73338000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:73315800-73319800	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:73315800-73320000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:73316000-73319600	Enhancers	HSMMtube	muscle
14	chr2:73316000-73320600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:73316000-73321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:73316000-73326600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:73316200-73320200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:73316200-73320600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:73316200-73320800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:73316200-73322000	Enhancers	Right Ventricle	heart
21	chr2:73316200-73330400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:73316200-73338400	Weak transcription	Brain Germinal Matrix	brain
23	chr2:73316400-73321000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:73316400-73321200	Enhancers	Pancreas	Pancrea
25	chr2:73316400-73321600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:73316400-73329000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:73316400-73329200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:73316400-73334400	Weak transcription	Fetal Brain Female	brain
29	chr2:73316400-73335000	Weak transcription	Brain Substantia Nigra	brain
30	chr2:73316600-73319400	Enhancers	HSMM	muscle
31	chr2:73316600-73322600	Enhancers	Placenta	Placenta
32	chr2:73316600-73323800	Weak transcription	Ovary	ovary
33	chr2:73316800-73319800	Enhancers	Osteobl	bone
34	chr2:73316800-73320200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:73316800-73320200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:73316800-73320200	Weak transcription	Aorta	Aorta
37	chr2:73316800-73320600	Enhancers	Fetal Intestine Small	intestine
38	chr2:73316800-73320800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:73316800-73321200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:73316800-73321600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:73316800-73322000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:73317000-73320200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:73317400-73319400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:73317400-73319600	Enhancers	NH-A	brain
45	chr2:73317400-73320000	Weak transcription	Esophagus	oesophagus
46	chr2:73317600-73319600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:73317600-73323800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:73317600-73327000	Weak transcription	Fetal Stomach	stomach
49	chr2:73317600-73328600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:73317800-73319600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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