Variant report

Variant	rs6799597
Chromosome Location	chr3:195835519-195835520
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195833897..195836319-chr3:195855387..195856917,2	K562	blood:
2	chr3:195819844..195822260-chr3:195835103..195837404,2	K562	blood:
3	chr3:195806585..195809917-chr3:195833913..195838190,5	MCF-7	breast:
4	chr3:195835327..195837562-chr3:195868199..195870958,2	MCF-7	breast:
5	chr3:195806985..195811297-chr3:195832492..195837081,8	MCF-7	breast:
6	chr3:195833897..195835594-chr3:195854209..195856917,2	K562	blood:
7	chr3:195803889..195810632-chr3:195834192..195839028,11	K562	blood:
8	chr3:195833135..195835855-chr3:195851255..195854205,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000072274	Chromatin interaction
ENSG00000224652	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs454516	0.94[CEU][hapmap]
rs4927717	1.00[ASW][hapmap];0.81[LWK][hapmap]
rs4927866	0.94[CEU][hapmap];0.97[TSI][hapmap]
rs6583288	1.00[CEU][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs6790016	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6792601	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208098	0.83[EUR][1000 genomes]
rs7617509	0.89[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs7648210	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7648504	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9822847	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv1010395	chr3:195641908-195848264	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	esv1820982	chr3:195651349-195835519	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
7	nsv878170	chr3:195677895-195871388	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
10	nsv1002584	chr3:195734933-195910772	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	nsv532214	chr3:195762648-195916068	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv1002065	chr3:195769609-195877692	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
15	nsv461130	chr3:195776240-195907653	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
16	nsv593069	chr3:195776240-195907653	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
17	nsv1005558	chr3:195789462-195919077	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
18	nsv536890	chr3:195789462-195919077	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195828000-195838800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:195833000-195840200	Enhancers	Placenta	Placenta
3	chr3:195833600-195835800	Enhancers	Duodenum Mucosa	Duodenum
4	chr3:195834200-195835600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:195834200-195835600	Enhancers	Esophagus	oesophagus
6	chr3:195834200-195835800	Enhancers	Fetal Intestine Large	intestine
7	chr3:195834200-195835800	Enhancers	Stomach Mucosa	stomach
8	chr3:195834400-195835600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr3:195834400-195835800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:195834400-195835800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:195834800-195835800	Enhancers	Fetal Intestine Small	intestine
12	chr3:195834800-195835800	Flanking Active TSS	K562	blood
13	chr3:195835000-195835600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr3:195835000-195835600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:195835000-195835600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:195835000-195835600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:195835000-195835600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:195835000-195835600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:195835000-195835600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:195835000-195835600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:195835000-195835600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:195835000-195835600	Enhancers	Fetal Heart	heart
23	chr3:195835000-195835600	Enhancers	Gastric	stomach
24	chr3:195835000-195835600	Flanking Active TSS	Hela-S3	cervix
25	chr3:195835000-195835800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:195835000-195835800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:195835000-195835800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:195835000-195835800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:195835000-195835800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:195835000-195835800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:195835000-195835800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:195835000-195835800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr3:195835000-195836000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:195835200-195835600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr3:195835200-195835600	Enhancers	Pancreas	Pancrea
36	chr3:195835200-195835600	ZNF genes & repeats	Right Atrium	heart
37	chr3:195835200-195835600	Enhancers	GM12878-XiMat	blood
38	chr3:195835400-195835600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:195835400-195835600	Enhancers	Fetal Muscle Trunk	muscle
40	chr3:195835400-195835600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr3:195835400-195835800	Enhancers	NHEK	skin
42	chr3:195835400-195837400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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