Variant report

Variant	rs7595120
Chromosome Location	chr2:99231805-99231806
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	POLR2A	chr2:99231735-99232634	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:99231720-99232579	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:99231799-99232519	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:99231680-99232887	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:99229952-99236699	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99223609..99227969-chr2:99231004..99234291,6	MCF-7	breast:

Variant related genes	Relation type
UNC50	TF binding region
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10199199	0.81[EUR][1000 genomes]
rs10496327	0.83[EUR][1000 genomes]
rs1139829	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11537554	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11884553	0.83[EUR][1000 genomes]
rs11888595	0.83[EUR][1000 genomes]
rs11892744	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11896729	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11901568	0.84[EUR][1000 genomes]
rs11902825	0.84[EUR][1000 genomes]
rs12052639	0.84[EUR][1000 genomes]
rs12617721	0.85[EUR][1000 genomes]
rs12618524	0.83[EUR][1000 genomes]
rs12619665	0.85[EUR][1000 genomes]
rs12622341	0.83[EUR][1000 genomes]
rs13402379	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1516085	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17031905	0.84[EUR][1000 genomes]
rs17032120	0.85[EUR][1000 genomes]
rs17032866	0.85[EUR][1000 genomes]
rs17032870	0.85[EUR][1000 genomes]
rs17033136	0.84[EUR][1000 genomes]
rs17033813	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17034171	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17034241	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17444095	0.83[EUR][1000 genomes]
rs17446058	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17504774	0.84[EUR][1000 genomes]
rs17505088	0.83[EUR][1000 genomes]
rs17505326	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17506535	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17513468	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1847550	0.81[EUR][1000 genomes]
rs2230388	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2276603	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278206	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2278207	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2278208	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2278212	0.85[EUR][1000 genomes]
rs2278213	0.84[EUR][1000 genomes]
rs2278214	0.84[EUR][1000 genomes]
rs2309390	0.85[EUR][1000 genomes]
rs3203856	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34906456	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3729568	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3754871	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754872	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754875	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3754877	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3754878	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3754879	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754880	0.81[EUR][1000 genomes]
rs3754881	0.85[EUR][1000 genomes]
rs3754883	0.85[EUR][1000 genomes]
rs3754884	0.84[EUR][1000 genomes]
rs3754885	0.84[EUR][1000 genomes]
rs3754886	0.82[EUR][1000 genomes]
rs3754888	0.85[EUR][1000 genomes]
rs3754889	0.82[EUR][1000 genomes]
rs3754890	0.84[EUR][1000 genomes]
rs3754891	0.85[EUR][1000 genomes]
rs3754893	0.83[EUR][1000 genomes]
rs3769698	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769701	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3769708	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3769709	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769712	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769713	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769715	0.84[EUR][1000 genomes]
rs3769716	0.84[EUR][1000 genomes]
rs3769717	0.84[EUR][1000 genomes]
rs3769719	0.85[EUR][1000 genomes]
rs3769723	0.85[EUR][1000 genomes]
rs3769724	0.84[EUR][1000 genomes]
rs3769725	0.85[EUR][1000 genomes]
rs3769726	0.84[EUR][1000 genomes]
rs3769727	0.85[EUR][1000 genomes]
rs3769728	0.84[EUR][1000 genomes]
rs3769729	0.85[EUR][1000 genomes]
rs3769730	0.84[EUR][1000 genomes]
rs3769733	0.84[EUR][1000 genomes]
rs3769734	0.83[EUR][1000 genomes]
rs3769735	0.88[EUR][1000 genomes]
rs3769736	0.84[EUR][1000 genomes]
rs3769737	0.84[EUR][1000 genomes]
rs3769738	0.85[EUR][1000 genomes]
rs3769740	0.84[EUR][1000 genomes]
rs3769741	0.84[EUR][1000 genomes]
rs3769743	0.84[EUR][1000 genomes]
rs3820941	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820943	0.84[EUR][1000 genomes]
rs3820945	0.84[EUR][1000 genomes]
rs4596026	0.85[EUR][1000 genomes]
rs4599165	0.84[EUR][1000 genomes]
rs4850874	0.84[EUR][1000 genomes]
rs4850875	0.83[EUR][1000 genomes]
rs4850876	0.84[EUR][1000 genomes]
rs4850877	0.84[EUR][1000 genomes]
rs4850878	0.84[EUR][1000 genomes]
rs4850879	0.84[EUR][1000 genomes]
rs4851136	0.82[EUR][1000 genomes]
rs4851140	0.84[EUR][1000 genomes]
rs4851141	0.83[EUR][1000 genomes]
rs4851142	0.84[EUR][1000 genomes]
rs4851144	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4851145	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4851146	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55900716	0.84[EUR][1000 genomes]
rs55934321	0.84[EUR][1000 genomes]
rs56091613	0.84[EUR][1000 genomes]
rs56118505	0.83[EUR][1000 genomes]
rs56141907	0.84[EUR][1000 genomes]
rs56197140	0.84[EUR][1000 genomes]
rs56240302	0.84[EUR][1000 genomes]
rs58778964	0.85[EUR][1000 genomes]
rs61180742	0.84[EUR][1000 genomes]
rs6736755	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6753380	0.85[EUR][1000 genomes]
rs6753515	0.85[EUR][1000 genomes]
rs72819965	0.81[AMR][1000 genomes]
rs72819996	0.82[EUR][1000 genomes]
rs72820002	0.84[EUR][1000 genomes]
rs72821904	0.84[EUR][1000 genomes]
rs72821907	0.84[EUR][1000 genomes]
rs72821908	0.85[EUR][1000 genomes]
rs72821920	0.84[EUR][1000 genomes]
rs72821924	0.85[EUR][1000 genomes]
rs72821930	0.85[EUR][1000 genomes]
rs72821939	0.84[EUR][1000 genomes]
rs72821943	0.85[EUR][1000 genomes]
rs72821946	0.85[EUR][1000 genomes]
rs72821951	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72821955	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821956	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821965	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72823788	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72823792	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72823794	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72823796	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72823801	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562232	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7585747	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7585939	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7588254	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs961242	0.85[EUR][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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr2:99225800-99235000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:99226600-99234400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:99226600-99234600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:99226600-99235000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:99226600-99235800	Strong transcription	HSMM	muscle
6	chr2:99226800-99232400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:99226800-99233600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr2:99226800-99234400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:99226800-99235200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:99226800-99235400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:99226800-99235600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:99226800-99238600	Strong transcription	Primary B cells from cord blood	blood
13	chr2:99227000-99239000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:99227200-99234800	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:99227200-99234800	Strong transcription	Ovary	ovary
16	chr2:99227200-99235400	Strong transcription	NH-A	brain
17	chr2:99227200-99236000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:99227200-99236000	Strong transcription	Placenta	Placenta
19	chr2:99227200-99257400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:99227400-99232400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:99227400-99233400	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr2:99227400-99234400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:99227400-99234600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:99227400-99234800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:99227400-99234800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:99227400-99234800	Strong transcription	Thymus	Thymus
27	chr2:99227400-99234800	Strong transcription	A549	lung
28	chr2:99227400-99234800	Strong transcription	HSMMtube	muscle
29	chr2:99227400-99235000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:99227400-99235200	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:99227400-99235400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:99227400-99235400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:99227400-99235600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:99227400-99235600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:99227400-99235800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:99227600-99233400	Strong transcription	Primary T cells from cord blood	blood
37	chr2:99227600-99234000	Strong transcription	HMEC	breast
38	chr2:99227600-99234200	Strong transcription	Fetal Stomach	stomach
39	chr2:99227600-99235000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr2:99227600-99235200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr2:99227600-99235200	Strong transcription	Osteobl	bone
42	chr2:99227600-99243200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:99227800-99232400	Strong transcription	Pancreas	Pancrea
44	chr2:99227800-99232400	Strong transcription	Psoas Muscle	Psoas
45	chr2:99227800-99234600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:99227800-99234600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:99227800-99234800	Strong transcription	GM12878-XiMat	blood
48	chr2:99227800-99239400	Strong transcription	HUVEC	blood vessel
49	chr2:99227800-99240200	Strong transcription	Fetal Thymus	thymus
50	chr2:99228000-99233600	Strong transcription	Fetal Lung	lung

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