Variant report

Variant	rs2814998
Chromosome Location	chr6:34625211-34625212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34623901..34626181-chr6:34657612..34659436,2	MCF-7	breast:
2	chr6:34615191..34621424-chr6:34622750..34629225,8	K562	blood:
3	chr6:34624273..34628240-chr6:34629354..34635168,7	K562	blood:
4	chr6:34624269..34626761-chr6:34723872..34726959,3	MCF-7	breast:
5	chr6:34624656..34626741-chr6:34662281..34665982,4	MCF-7	breast:
6	chr6:34624408..34626626-chr6:34638129..34641870,3	MCF-7	breast:
7	chr6:34618776..34621616-chr6:34625055..34627010,3	K562	blood:

Variant related genes	Relation type
ENSG00000272288	Chromatin interaction
ENSG00000124562	Chromatin interaction
ENSG00000196821	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11970421	0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs16894102	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs16894945	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs1964810	0.94[ASN][1000 genomes]
rs2064253	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2235571	0.90[ASN][1000 genomes]
rs2235572	0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2252551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294536	0.87[ASN][1000 genomes]
rs2492862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2744937	0.81[YRI][hapmap]
rs2744948	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2744952	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744953	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2744963	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2744966	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2744967	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2744968	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2744970	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2744972	0.81[YRI][hapmap]
rs2744975	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2764199	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs2764200	0.81[EUR][1000 genomes]
rs2764202	0.81[EUR][1000 genomes]
rs2814943	0.81[YRI][hapmap]
rs2814950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2814954	0.81[EUR][1000 genomes]
rs2814983	0.81[YRI][hapmap]
rs2814985	0.81[YRI][hapmap]
rs2814989	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2814990	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814993	0.81[YRI][hapmap]
rs2814997	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2815000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2815003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815005	0.81[YRI][hapmap]
rs3736896	0.81[ASN][1000 genomes]
rs3798349	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs3800455	0.83[ASN][1000 genomes]
rs3800456	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800457	0.81[YRI][hapmap]
rs41438444	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4615374	0.92[ASN][1000 genomes]
rs4618513	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711399	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4713823	0.81[ASN][1000 genomes]
rs56987113	0.97[ASN][1000 genomes]
rs57994417	0.88[ASN][1000 genomes]
rs58643640	0.94[ASN][1000 genomes]
rs6906500	0.81[EUR][1000 genomes]
rs6932930	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6939345	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs73413893	0.85[ASN][1000 genomes]
rs7751664	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7752237	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7772600	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9296126	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368829	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9380451	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic 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	24 gene(s)	inside rSNPs	diseases
9	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2814998	UHRF1BP1	cis	Artery Tibial	GTEx
rs2814998	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs2814998	UHRF1BP1	cis	Whole Blood	GTEx
rs2814998	UHRF1BP1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34603600-34625800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:34621600-34626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:34623400-34625800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr6:34623400-34625800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:34623600-34625800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:34623800-34625800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr6:34623800-34625800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr6:34623800-34625800	Enhancers	Gastric	stomach
9	chr6:34623800-34627000	Enhancers	Pancreas	Pancrea
10	chr6:34624000-34625800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:34624000-34625800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr6:34624000-34625800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:34624000-34625800	Weak transcription	Lung	lung
14	chr6:34624000-34625800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:34624000-34625800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:34624000-34625800	Flanking Active TSS	Osteobl	bone
17	chr6:34624000-34626000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:34624000-34626000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:34624000-34626200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr6:34624000-34626400	Enhancers	Small Intestine	intestine
21	chr6:34624200-34625600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:34624200-34625600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr6:34624200-34625800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:34624200-34625800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:34624200-34625800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr6:34624200-34625800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:34624200-34625800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr6:34624200-34625800	Flanking Active TSS	Liver	Liver
29	chr6:34624200-34625800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:34624200-34625800	Flanking Active TSS	Stomach Mucosa	stomach
31	chr6:34624200-34625800	Flanking Active TSS	HepG2	liver
32	chr6:34624200-34625800	Flanking Active TSS	HSMMtube	muscle
33	chr6:34624200-34625800	Flanking Active TSS	NHDF-Ad	bronchial
34	chr6:34624200-34626000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:34624200-34626000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:34624200-34626000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr6:34624200-34626000	Flanking Active TSS	Hela-S3	cervix
38	chr6:34624200-34627200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:34624400-34625600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:34624400-34625600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:34624400-34625600	Enhancers	Fetal Brain Female	brain
42	chr6:34624400-34625800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:34624400-34625800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:34624400-34625800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr6:34624400-34625800	Flanking Active TSS	HUVEC	blood vessel
46	chr6:34624400-34625800	Flanking Active TSS	NHLF	lung
47	chr6:34624400-34626000	Flanking Active TSS	Dnd41	blood
48	chr6:34624400-34626200	Flanking Active TSS	GM12878-XiMat	blood
49	chr6:34624400-34627200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr6:34624600-34625600	Enhancers	H1 Cell Line	embryonic stem cell

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