Variant report

Variant	rs7630154
Chromosome Location	chr3:47182018-47182019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47181313..47183259-chr3:47377303..47380190,2	K562	blood:
2	chr3:47175740..47177368-chr3:47181984..47183489,2	K562	blood:
3	chr3:47181264..47183040-chr3:47204354..47206235,2	K562	blood:

Variant related genes	Relation type
ENSG00000181555	Chromatin interaction
ENSG00000227398	Chromatin interaction

Extended variants
information (count: 190 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:187)

rs_ID	r²[population]
rs1024036	0.84[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1038393	1.00[EUR][1000 genomes]
rs10461017	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs10461019	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs10865945	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865947	1.00[EUR][1000 genomes]
rs1091068	1.00[EUR][1000 genomes]
rs11130108	1.00[EUR][1000 genomes]
rs11130109	1.00[EUR][1000 genomes]
rs11130122	0.87[AMR][1000 genomes]
rs11706212	1.00[EUR][1000 genomes]
rs11708257	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs11709693	1.00[EUR][1000 genomes]
rs11709876	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs11713537	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs12330516	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12487763	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631730	1.00[YRI][hapmap]
rs13062185	1.00[EUR][1000 genomes]
rs13077134	1.00[EUR][1000 genomes]
rs13078181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13079174	0.87[AMR][1000 genomes]
rs13079416	1.00[EUR][1000 genomes]
rs13082531	1.00[EUR][1000 genomes]
rs13084060	1.00[AMR][1000 genomes]
rs13323092	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1378818	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs1463394	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs1466272	1.00[EUR][1000 genomes]
rs1466273	1.00[EUR][1000 genomes]
rs1473382	1.00[EUR][1000 genomes]
rs1531874	1.00[EUR][1000 genomes]
rs1563431	1.00[EUR][1000 genomes]
rs1563432	1.00[EUR][1000 genomes]
rs1814564	1.00[EUR][1000 genomes]
rs1869870	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs1872165	1.00[EUR][1000 genomes]
rs1874264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979736	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124509	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs2350642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385863	1.00[EUR][1000 genomes]
rs2385868	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs2385869	0.95[YRI][hapmap]
rs28735306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2891893	0.86[YRI][hapmap]
rs295431	1.00[EUR][1000 genomes]
rs295432	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs295434	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs295443	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295448	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs295450	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs295451	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs295453	1.00[EUR][1000 genomes]
rs295454	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs295455	1.00[EUR][1000 genomes]
rs295456	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs295457	1.00[EUR][1000 genomes]
rs295459	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs35366910	1.00[EUR][1000 genomes]
rs4018904	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4282092	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs4289375	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs4324490	1.00[EUR][1000 genomes]
rs4373094	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs4378998	1.00[EUR][1000 genomes]
rs4389512	1.00[EUR][1000 genomes]
rs4450857	1.00[EUR][1000 genomes]
rs4478107	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs448018	1.00[EUR][1000 genomes]
rs4522803	1.00[EUR][1000 genomes]
rs4525902	1.00[EUR][1000 genomes]
rs4543047	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs4682828	1.00[EUR][1000 genomes]
rs4682832	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs4682833	1.00[EUR][1000 genomes]
rs4682834	1.00[EUR][1000 genomes]
rs4682835	1.00[EUR][1000 genomes]
rs4682836	1.00[EUR][1000 genomes]
rs4682838	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs4682841	1.00[EUR][1000 genomes]
rs4682843	1.00[EUR][1000 genomes]
rs4682846	1.00[EUR][1000 genomes]
rs4682847	1.00[EUR][1000 genomes]
rs4683277	1.00[EUR][1000 genomes]
rs4683279	1.00[EUR][1000 genomes]
rs4683282	0.85[YRI][hapmap]
rs4683283	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs4683284	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs4683285	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs4683286	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs4683288	1.00[EUR][1000 genomes]
rs4683289	1.00[EUR][1000 genomes]
rs4683290	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs4683291	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs4683292	1.00[EUR][1000 genomes]
rs4683293	1.00[EUR][1000 genomes]
rs6442041	1.00[EUR][1000 genomes]
rs6442042	1.00[EUR][1000 genomes]
rs6442043	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs6442044	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs6442047	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs6442048	1.00[EUR][1000 genomes]
rs6442062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442066	1.00[EUR][1000 genomes]
rs648226	1.00[EUR][1000 genomes]
rs6766676	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs6767868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6768169	1.00[EUR][1000 genomes]
rs6772449	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6775797	1.00[EUR][1000 genomes]
rs6778673	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778687	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6780994	1.00[EUR][1000 genomes]
rs6785462	1.00[EUR][1000 genomes]
rs6787210	0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6788978	1.00[EUR][1000 genomes]
rs6789730	1.00[EUR][1000 genomes]
rs6804732	1.00[EUR][1000 genomes]
rs6806521	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs6808117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6809904	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7372780	1.00[EUR][1000 genomes]
rs73831482	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615774	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7621530	1.00[EUR][1000 genomes]
rs7624549	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs7625011	0.86[YRI][hapmap]
rs7630904	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7638549	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs7639121	0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7643150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7643181	1.00[AMR][1000 genomes]
rs7643868	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs7644043	1.00[EUR][1000 genomes]
rs7644382	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7646076	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs7649413	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7649941	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs7650142	1.00[EUR][1000 genomes]
rs7652492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807930	1.00[EUR][1000 genomes]
rs807933	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900688	1.00[EUR][1000 genomes]
rs900689	1.00[EUR][1000 genomes]
rs900690	1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900694	1.00[EUR][1000 genomes]
rs903538	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs924009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936177	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs936178	1.00[EUR][1000 genomes]
rs936179	1.00[EUR][1000 genomes]
rs936180	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs936181	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs936182	1.00[EUR][1000 genomes]
rs936185	1.00[EUR][1000 genomes]
rs936186	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs9810881	1.00[EUR][1000 genomes]
rs9812407	1.00[EUR][1000 genomes]
rs9819475	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9823480	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9823599	0.85[AMR][1000 genomes]
rs9826488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9827293	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828124	1.00[EUR][1000 genomes]
rs9828473	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9833500	1.00[EUR][1000 genomes]
rs9850151	1.00[EUR][1000 genomes]
rs9852167	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9861247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9861265	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9862711	1.00[EUR][1000 genomes]
rs9869489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9873037	0.88[AFR][1000 genomes]
rs9878813	1.00[EUR][1000 genomes]
rs9883152	1.00[EUR][1000 genomes]
rs9883909	1.00[EUR][1000 genomes]
rs9990284	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47155400-47183800	Weak transcription	Esophagus	oesophagus
2	chr3:47165800-47187000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:47165800-47191000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:47165800-47197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:47166000-47182600	Weak transcription	Fetal Lung	lung
6	chr3:47166000-47182800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:47166000-47183000	Weak transcription	Fetal Kidney	kidney
8	chr3:47166000-47200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:47166000-47201200	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:47166000-47204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:47166200-47197200	Weak transcription	Aorta	Aorta
12	chr3:47166200-47200600	Weak transcription	Hela-S3	cervix
13	chr3:47166400-47194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:47166600-47182800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:47166600-47204200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:47167400-47202400	Weak transcription	HSMM	muscle
17	chr3:47167800-47187600	Weak transcription	Fetal Stomach	stomach
18	chr3:47167800-47195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:47170200-47182800	Weak transcription	Dnd41	blood
20	chr3:47170200-47183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:47172600-47183200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:47173600-47191000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:47175800-47200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:47176400-47190800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:47176600-47184600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:47176800-47182600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:47177400-47182800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:47177400-47182800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:47177800-47182600	Weak transcription	Brain Anterior Caudate	brain
30	chr3:47177800-47182800	Weak transcription	K562	blood
31	chr3:47177800-47194200	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:47178000-47182200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:47178000-47182400	Weak transcription	Stomach Mucosa	stomach
34	chr3:47178000-47182600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:47178000-47182800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:47178000-47182800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:47178000-47182800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:47178000-47183400	Weak transcription	Brain Substantia Nigra	brain
39	chr3:47178000-47190800	Weak transcription	Right Ventricle	heart
40	chr3:47178000-47194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:47178200-47182800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:47178200-47183400	Weak transcription	NHEK	skin
43	chr3:47178400-47182200	Weak transcription	Ovary	ovary
44	chr3:47178400-47182600	Weak transcription	Primary T cells from cord blood	blood
45	chr3:47178400-47183600	Weak transcription	Left Ventricle	heart
46	chr3:47178600-47183600	Weak transcription	Spleen	Spleen
47	chr3:47178600-47187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:47178600-47188200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:47178600-47190600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:47180000-47184000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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