Variant report

Variant	rs67308158
Chromosome Location	chr2:64129453-64129454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64122001..64123547-chr2:64129156..64130782,2	K562	blood:
2	chr2:64110843..64112629-chr2:64128824..64132161,3	MCF-7	breast:
3	chr2:64126493..64128913-chr2:64128922..64131491,2	K562	blood:
4	chr2:64121804..64124503-chr2:64129282..64132356,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10183479	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11558741	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674020	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676710	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11683408	0.92[ASN][1000 genomes]
rs11686956	0.82[ASN][1000 genomes]
rs11691987	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11693906	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11694253	0.83[ASN][1000 genomes]
rs11695421	0.92[ASN][1000 genomes]
rs12713498	1.00[ASN][1000 genomes]
rs12996866	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13018690	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13431781	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440002	0.98[ASN][1000 genomes]
rs17562177	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17562423	0.90[ASN][1000 genomes]
rs17619753	0.92[ASN][1000 genomes]
rs193031	0.80[ASN][1000 genomes]
rs2302808	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2439183	0.88[ASN][1000 genomes]
rs2969395	0.88[ASN][1000 genomes]
rs329478	0.88[ASN][1000 genomes]
rs329488	0.80[ASN][1000 genomes]
rs34122334	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34765999	0.88[ASN][1000 genomes]
rs34777730	0.88[ASN][1000 genomes]
rs35002211	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35336851	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs35474183	0.88[ASN][1000 genomes]
rs35480874	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35697586	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35960986	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs36033991	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36123537	0.90[ASN][1000 genomes]
rs4233930	0.91[ASN][1000 genomes]
rs4538187	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671071	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56904032	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6546029	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546030	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546032	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546033	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546035	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66980330	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715992	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731508	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732746	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755646	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67615384	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67765474	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68117986	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72808243	0.96[ASN][1000 genomes]
rs72893103	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7590399	0.87[EUR][1000 genomes];1.00[ASN][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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers 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	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64103800-64130400	Weak transcription	Stomach Mucosa	stomach
2	chr2:64107200-64130000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:64107400-64129600	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr2:64112800-64129600	Strong transcription	NH-A	brain
5	chr2:64114000-64130600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
7	chr2:64114200-64174800	Weak transcription	Right Ventricle	heart
8	chr2:64116800-64138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:64118200-64153600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:64118400-64137800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:64119200-64130200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:64119200-64130200	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:64119200-64132800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:64119400-64133200	Weak transcription	Brain Anterior Caudate	brain
15	chr2:64119600-64129800	Strong transcription	HepG2	liver
16	chr2:64119600-64139600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:64121000-64129800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:64122600-64129600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:64125200-64129600	Strong transcription	Fetal Intestine Large	intestine
20	chr2:64125400-64129600	Strong transcription	Colonic Mucosa	Colon
21	chr2:64125800-64130200	Weak transcription	HUVEC	blood vessel
22	chr2:64126000-64130200	Weak transcription	HMEC	breast
23	chr2:64126000-64138000	Weak transcription	Brain Angular Gyrus	brain
24	chr2:64126200-64138800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:64126800-64129600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:64126800-64130400	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr2:64126800-64132400	Weak transcription	K562	blood
28	chr2:64127000-64130000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:64127000-64132600	Weak transcription	Liver	Liver
30	chr2:64127000-64133200	Weak transcription	Placenta	Placenta
31	chr2:64127200-64129800	Strong transcription	Fetal Stomach	stomach
32	chr2:64127200-64138000	Weak transcription	HSMMtube	muscle
33	chr2:64127400-64138600	Weak transcription	Psoas Muscle	Psoas
34	chr2:64127800-64130200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:64128200-64130800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:64128200-64132200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:64128200-64134000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:64128400-64130000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:64128400-64130000	ZNF genes & repeats	Fetal Thymus	thymus
40	chr2:64128400-64131000	ZNF genes & repeats	A549	lung
41	chr2:64128400-64131000	ZNF genes & repeats	GM12878-XiMat	blood
42	chr2:64128400-64132000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:64128600-64129600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:64128600-64129600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:64128600-64129600	Strong transcription	Thymus	Thymus
46	chr2:64128600-64129600	ZNF genes & repeats	NHLF	lung
47	chr2:64128600-64129800	Strong transcription	Ovary	ovary
48	chr2:64128600-64130000	ZNF genes & repeats	Esophagus	oesophagus
49	chr2:64128600-64130000	Strong transcription	Lung	lung
50	chr2:64128600-64130000	Strong transcription	Rectal Smooth Muscle	rectum

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