Variant report

Variant	rs35987776
Chromosome Location	chr6:34641224-34641225
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:34639498-34641830	GM12891	blood:	n/a	n/a
2	NFIC	chr6:34641106-34641930	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:34641193-34641955	GM12891	blood:	n/a	n/a
4	EP300	chr6:34641161-34641925	HepG2	liver:	n/a	chr6:34641755-34641764
5	TBP	chr6:34640570-34641924	GM12878	blood:	n/a	n/a
6	TEAD4	chr6:34641010-34641975	HepG2	liver:	n/a	n/a
7	STAT3	chr6:34640648-34641937	GM12878	blood:	n/a	n/a
8	CHD1	chr6:34639577-34641767	GM12878	blood:	n/a	n/a
9	NFIC	chr6:34640132-34642350	GM12878	blood:	n/a	n/a
10	HDAC2	chr6:34641176-34641908	HepG2	liver:	n/a	n/a
11	NFATC1	chr6:34641128-34641945	GM12878	blood:	n/a	n/a
12	NFATC1	chr6:34641055-34641943	GM12878	blood:	n/a	n/a
13	MBD4	chr6:34641147-34641903	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:34641151-34641988	GM12892	blood:	n/a	n/a
15	NR2F2	chr6:34641213-34641900	HepG2	liver:	n/a	n/a
16	MAX	chr6:34641192-34641915	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:34641148-34641824	Raji	blood:	n/a	n/a
18	POLR2A	chr6:34640784-34641974	GM12878	blood:	n/a	n/a
19	STAT5A	chr6:34640839-34641920	GM12878	blood:	n/a	n/a
20	RELA	chr6:34640449-34641830	GM19099	blood:	n/a	n/a
21	STAT5A	chr6:34640861-34641921	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:34641076-34641741	GM12878	blood:	n/a	n/a
23	SP1	chr6:34641172-34641918	HepG2	liver:	n/a	n/a
24	FOXM1	chr6:34641200-34642110	GM12878	blood:	n/a	n/a
25	RUNX3	chr6:34641161-34641918	GM12878	blood:	n/a	n/a
26	CBX3	chr6:34641219-34642030	K562	blood:	n/a	n/a
27	MXI1	chr6:34641212-34641962	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:34641216-34641773	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:34639418-34641826	GM12878	blood:	n/a	n/a
30	MTA3	chr6:34641073-34643108	GM12878	blood:	n/a	n/a
31	FOXA1	chr6:34641206-34641933	HepG2	liver:	n/a	n/a
32	FOXA1	chr6:34641195-34641948	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:34641207-34641837	GM12891	blood:	n/a	n/a
34	CEBPB	chr6:34641205-34642002	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:34640316-34641936	GM12878	blood:	n/a	n/a
36	ATF2	chr6:34641172-34641942	GM12878	blood:	n/a	n/a
37	ZNF384	chr6:34640889-34642000	GM12878	blood:	n/a	n/a
38	YY1	chr6:34641208-34641633	HepG2	liver:	n/a	n/a
39	NFIC	chr6:34641090-34641943	GM12878	blood:	n/a	n/a
40	POLR2A	chr6:34641218-34641863	GM12891	blood:	n/a	n/a
41	POLR2A	chr6:34641185-34641870	GM12892	blood:	n/a	n/a
42	EBF1	chr6:34640608-34641826	GM12878	blood:	n/a	n/a
43	PML	chr6:34640774-34641959	GM12878	blood:	n/a	n/a
44	MYBL2	chr6:34640958-34642594	HepG2	liver:	n/a	n/a
45	MYBL2	chr6:34641220-34642625	HepG2	liver:	n/a	n/a
46	ATF2	chr6:34641174-34641915	GM12878	blood:	n/a	n/a
47	BCLAF1	chr6:34641205-34641948	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34204487..34207183-chr6:34640663..34642574,2	K562	blood:
2	chr6:34640245..34642363-chr6:34759538..34762413,2	K562	blood:
3	chr6:34641071..34643184-chr6:34856512..34858479,2	K562	blood:

No data

Variant related genes	Relation type
C6orf106	TF binding region
ENSG00000064999	Chromatin interaction
ENSG00000065060	Chromatin interaction
ENSG00000137309	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1201872	0.88[ASN][1000 genomes]
rs13196983	0.85[ASN][1000 genomes]
rs13209544	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16892384	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892386	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205261	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205262	0.84[ASN][1000 genomes]
rs205263	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205264	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205265	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205266	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs205267	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205284	0.88[ASN][1000 genomes]
rs34261333	0.82[ASN][1000 genomes]
rs34374374	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34377413	0.82[ASN][1000 genomes]
rs35081279	0.81[ASN][1000 genomes]
rs35286877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35369977	0.82[ASN][1000 genomes]
rs36032186	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4438945	0.82[ASN][1000 genomes]
rs451263	0.91[ASN][1000 genomes]
rs451603	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6457784	0.89[ASN][1000 genomes]
rs66614727	0.82[EUR][1000 genomes]
rs66926909	0.82[ASN][1000 genomes]
rs66948142	0.81[EUR][1000 genomes]
rs67895864	0.81[ASN][1000 genomes]
rs6900426	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6908462	0.85[ASN][1000 genomes]
rs6909393	0.85[ASN][1000 genomes]
rs6909637	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937428	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910111	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7738377	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7748836	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7749750	0.85[ASN][1000 genomes]
rs7759412	0.85[ASN][1000 genomes]
rs7759985	0.85[ASN][1000 genomes]
rs7763989	0.85[ASN][1000 genomes]
rs7764921	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7765969	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9461992	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9461993	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9461994	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461997	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462001	0.91[ASN][1000 genomes]
rs9462002	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9462003	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9469812	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469813	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469814	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469820	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9469822	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9469827	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9469832	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9469836	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469837	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469838	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9469840	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469842	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469843	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469847	0.89[ASN][1000 genomes]
rs9469852	0.85[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35987776	UHRF1BP1	cis	Artery Tibial	GTEx
rs35987776	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs35987776	SNRPC	cis	lung	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34626000-34647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:34626800-34641600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:34628000-34641400	Weak transcription	Gastric	stomach
6	chr6:34632600-34647400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:34632800-34655200	Weak transcription	Fetal Stomach	stomach
8	chr6:34633000-34662800	Weak transcription	Aorta	Aorta
9	chr6:34633400-34641400	Weak transcription	Ovary	ovary
10	chr6:34634400-34641400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:34634800-34663200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:34635800-34647400	Weak transcription	Brain Angular Gyrus	brain
13	chr6:34636400-34662200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:34638200-34642200	Enhancers	Liver	Liver
15	chr6:34638400-34642400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:34638600-34644200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:34638800-34641800	Enhancers	NHLF	lung
18	chr6:34638800-34642800	Enhancers	Adipose Nuclei	Adipose
19	chr6:34638800-34643000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:34639000-34641600	Enhancers	Small Intestine	intestine
21	chr6:34639000-34642400	Enhancers	NHDF-Ad	bronchial
22	chr6:34639000-34643000	Enhancers	Fetal Thymus	thymus
23	chr6:34639000-34643200	Enhancers	Fetal Intestine Large	intestine
24	chr6:34639200-34641400	Enhancers	A549	lung
25	chr6:34639200-34641600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr6:34639400-34641400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr6:34639400-34641400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr6:34639400-34641600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr6:34639400-34641600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr6:34639400-34641600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:34639400-34642400	Enhancers	HUVEC	blood vessel
32	chr6:34639400-34643000	Enhancers	Duodenum Mucosa	Duodenum
33	chr6:34639400-34643000	Enhancers	Stomach Mucosa	stomach
34	chr6:34639400-34643600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr6:34639600-34641400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr6:34639600-34641400	Weak transcription	Right Ventricle	heart
37	chr6:34639600-34641600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:34639600-34643000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:34639800-34642200	Enhancers	Thymus	Thymus
40	chr6:34639800-34642400	Enhancers	Hela-S3	cervix
41	chr6:34639800-34642400	Enhancers	NHEK	skin
42	chr6:34639800-34642800	Enhancers	K562	blood
43	chr6:34639800-34644600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr6:34639800-34648600	Weak transcription	HSMM	muscle
45	chr6:34639800-34662800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:34639800-34662800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:34640000-34641400	Weak transcription	Lung	lung
48	chr6:34640000-34641400	Weak transcription	Pancreas	Pancrea
49	chr6:34640000-34641400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr6:34640000-34641600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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