Variant report

Variant	rs2395607
Chromosome Location	chr6:34773727-34773728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34773262..34775486-chr6:34854504..34857220,2	K562	blood:
2	chr6:34759093..34761380-chr6:34773456..34776260,3	MCF-7	breast:
3	chr6:34773543..34776313-chr6:34779272..34782261,3	K562	blood:
4	chr6:34772137..34774417-chr6:34775291..34779142,3	K562	blood:
5	chr6:34773594..34775363-chr6:34780371..34783229,3	K562	blood:

Variant related genes	Relation type
ENSG00000065060	Chromatin interaction
ENSG00000064999	Chromatin interaction
ENSG00000064995	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11756392	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759235	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555773	1.00[CEU][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16894959	1.00[CHD][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883638	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744972	1.00[CHD][hapmap]
rs2764199	0.81[MKK][hapmap]
rs2764203	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764204	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2764205	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814948	0.82[EUR][1000 genomes]
rs2814960	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814962	1.00[CEU][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814983	1.00[CHD][hapmap]
rs2814993	1.00[CHD][hapmap]
rs2815005	1.00[CHD][hapmap]
rs28567450	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800457	1.00[CHD][hapmap]
rs4472337	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56693020	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59142559	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60643641	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61431557	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457790	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911549	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936177	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6938239	0.85[EUR][1000 genomes]
rs6939345	0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs73419607	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419621	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755822	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762485	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296130	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462007	0.81[ASW][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs9462012	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9462014	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9462016	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462025	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462029	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469860	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469864	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469881	0.92[AFR][1000 genomes]
rs9469890	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469895	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469897	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469900	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469907	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469910	1.00[CEU][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469911	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469913	1.00[CEU][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9654581	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688715	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv885796	chr6:34739726-34823187	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv970328	chr6:34760989-34774305	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2395607	UHRF1BP1	cis	Whole Blood	GTEx
rs2395607	C6orf106	cis	parietal	SCAN
rs2395607	SNRPC	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34761400-34774200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:34761400-34774600	Weak transcription	HSMMtube	muscle
3	chr6:34761400-34779200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:34761400-34779600	Weak transcription	Right Atrium	heart
5	chr6:34761400-34784200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:34761400-34787200	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:34761400-34789400	Weak transcription	Fetal Stomach	stomach
8	chr6:34761400-34789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:34761400-34790800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:34761600-34774200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:34761600-34784200	Weak transcription	Primary B cells from cord blood	blood
12	chr6:34761800-34784400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:34761800-34784800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:34762000-34788400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:34764000-34784400	Weak transcription	Fetal Intestine Large	intestine
16	chr6:34764000-34803800	Weak transcription	HSMM	muscle
17	chr6:34764200-34785000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:34764600-34777000	Weak transcription	Hela-S3	cervix
19	chr6:34764600-34787400	Weak transcription	Liver	Liver
20	chr6:34764800-34774400	Weak transcription	Left Ventricle	heart
21	chr6:34764800-34779000	Weak transcription	Stomach Mucosa	stomach
22	chr6:34765400-34782200	Weak transcription	K562	blood
23	chr6:34766000-34784400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:34766800-34778800	Weak transcription	HepG2	liver
25	chr6:34768200-34773800	Weak transcription	Fetal Heart	heart
26	chr6:34768200-34774800	Weak transcription	A549	lung
27	chr6:34768400-34774600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:34769400-34774000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:34771000-34778800	Weak transcription	Fetal Intestine Small	intestine
30	chr6:34772400-34774400	Weak transcription	Right Ventricle	heart
31	chr6:34772600-34774400	Weak transcription	Pancreas	Pancrea
32	chr6:34772600-34789400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:34773000-34775000	Weak transcription	GM12878-XiMat	blood
34	chr6:34773000-34778200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:34773200-34778400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:34773200-34791400	Weak transcription	Gastric	stomach
37	chr6:34773400-34779600	Weak transcription	Psoas Muscle	Psoas

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