Variant report

Variant	rs2071206
Chromosome Location	chr3:50160109-50160110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50157801..50161419-chr3:50224013..50228566,6	MCF-7	breast:
2	chr3:50157579..50160318-chr3:50233509..50235124,2	MCF-7	breast:
3	chr3:50159863..50162699-chr3:50227102..50229015,2	MCF-7	breast:
4	chr3:50157890..50164898-chr3:50186493..50191745,15	MCF-7	breast:
5	chr3:50159501..50162170-chr3:50213209..50216428,3	K562	blood:
6	chr3:50159102..50161217-chr3:50161241..50163893,2	MCF-7	breast:
7	chr3:50157879..50160528-chr3:50162974..50166130,4	K562	blood:
8	chr3:50158572..50161152-chr3:50232381..50234438,2	MCF-7	breast:
9	chr3:50159501..50161676-chr3:50213209..50215105,2	K562	blood:
10	chr3:50159634..50161938-chr3:50227980..50230309,2	K562	blood:
11	chr3:50159660..50164036-chr3:50192840..50194687,5	MCF-7	breast:
12	chr3:50157123..50160509-chr3:50182287..50185771,3	MCF-7	breast:
13	chr3:50159456..50162319-chr3:50219571..50221770,3	K562	blood:
14	chr3:50126403..50128325-chr3:50160017..50162244,2	K562	blood:
15	chr3:50157840..50167526-chr3:50182100..50196634,43	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000003756	Chromatin interaction
ENSG00000114349	Chromatin interaction
ENSG00000235016	Chromatin interaction
ENSG00000001617	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10049087	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11713562	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12485600	0.80[EUR][1000 genomes]
rs13060128	0.80[EUR][1000 genomes]
rs2008877	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2013208	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240326	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240327	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240329	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2245365	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2301166	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2353579	0.80[EUR][1000 genomes]
rs2526743	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2526748	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2526751	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2526754	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2624816	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2624823	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2624824	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2624825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2624847	0.88[ASN][1000 genomes]
rs2624853	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2856234	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2856236	0.85[EUR][1000 genomes]
rs34080578	0.80[EUR][1000 genomes]
rs34831713	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3733133	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3774733	0.80[EUR][1000 genomes]
rs4688686	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4688689	0.80[EUR][1000 genomes]
rs4688690	0.80[EUR][1000 genomes]
rs4688755	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4688757	0.80[EUR][1000 genomes]
rs4688758	0.80[EUR][1000 genomes]
rs6446193	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66851636	0.80[EUR][1000 genomes]
rs6765484	0.82[AMR][1000 genomes]
rs7428430	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7621352	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7628058	0.80[EUR][1000 genomes]
rs7642934	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9311446	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9810125	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9814664	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9853222	0.80[EUR][1000 genomes]
rs9856572	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9861216	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9866695	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv818139	chr3:50144951-50174572	Weak transcription Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv876768	chr3:50144951-50267584	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
8	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
11	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
12	esv3386929	chr3:50156348-50161346	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
14	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
15	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
16	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
17	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2071206	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs2071206	RBM6	cis	Esophagus Muscularis	GTEx
rs2071206	RBM6	cis	Artery Aorta	GTEx
rs2071206	RBM6	cis	Adipose Subcutaneous	GTEx
rs2071206	RBM6	cis	Heart Left Ventricle	GTEx
rs2071206	RBM6	cis	Skin Sun Exposed Lower leg	GTEx
rs2071206	RBM6	cis	Artery Tibial	GTEx
rs2071206	RBM6	cis	lung	GTEx
rs2071206	RBM6	cis	Stomach	GTEx
rs2071206	RBM6	cis	Whole Blood	GTEx
rs2071206	RBM6	cis	Thyroid	GTEx
rs2071206	RBM6	cis	Nerve Tibial	GTEx
rs2071206	RBM6	cis	Esophagus Mucosa	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50128600-50160400	Strong transcription	Fetal Thymus	thymus
2	chr3:50129000-50160800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr3:50129200-50160200	Strong transcription	Fetal Brain Female	brain
4	chr3:50129600-50161600	Strong transcription	Thymus	Thymus
5	chr3:50133800-50161200	Strong transcription	Right Ventricle	heart
6	chr3:50143200-50163200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:50151000-50176400	Weak transcription	Right Atrium	heart
8	chr3:50153200-50160200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:50153600-50162200	Weak transcription	Fetal Heart	heart
10	chr3:50156400-50161200	Weak transcription	A549	lung
11	chr3:50156400-50163800	Weak transcription	K562	blood
12	chr3:50156600-50162000	Weak transcription	NHDF-Ad	bronchial
13	chr3:50157600-50161800	Weak transcription	Ovary	ovary
14	chr3:50157600-50162000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:50157800-50161200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:50157800-50161200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:50157800-50161400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:50157800-50161400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:50157800-50163200	Weak transcription	Brain Substantia Nigra	brain
20	chr3:50157800-50164400	Weak transcription	Small Intestine	intestine
21	chr3:50158000-50161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:50158000-50162000	Weak transcription	NH-A	brain
23	chr3:50158200-50160800	Weak transcription	Hela-S3	cervix
24	chr3:50158200-50162000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:50158400-50160200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:50158400-50161200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:50158400-50161800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:50158400-50162000	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:50158400-50162000	Weak transcription	HUVEC	blood vessel
30	chr3:50158600-50160400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:50158600-50161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:50158600-50162000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:50158600-50163200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:50158600-50163200	Weak transcription	Left Ventricle	heart
35	chr3:50158600-50164200	Weak transcription	Aorta	Aorta
36	chr3:50158600-50164400	Weak transcription	HSMMtube	muscle
37	chr3:50158800-50160800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:50158800-50160800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:50158800-50160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:50158800-50161800	Weak transcription	Brain Germinal Matrix	brain
41	chr3:50158800-50162000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:50158800-50162000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:50158800-50162000	Weak transcription	Osteobl	bone
44	chr3:50158800-50162400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:50158800-50162600	Weak transcription	Primary B cells from cord blood	blood
46	chr3:50159000-50160600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:50159000-50160600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:50159000-50160600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:50159000-50161000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:50159000-50161400	Weak transcription	Lung	lung

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