Variant report

Variant	rs56194627
Chromosome Location	chr3:195852069-195852070
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195805159..195810209-chr3:195847550..195859709,26	K562	blood:
2	chr3:195850494..195853665-chr3:195861642..195864402,3	MCF-7	breast:
3	chr3:195798835..195801294-chr3:195851652..195854470,2	K562	blood:
4	chr3:195833135..195835855-chr3:195851255..195854205,2	MCF-7	breast:
5	chr3:195845862..195855651-chr3:195867758..195873687,15	K562	blood:
6	chr3:195840556..195842327-chr3:195850355..195852672,2	K562	blood:
7	chr3:195806016..195810377-chr3:195847208..195852318,8	MCF-7	breast:
8	chr3:195805283..195810498-chr3:195849282..195852599,5	K562	blood:
9	chr3:195827209..195829338-chr3:195849917..195852372,2	K562	blood:
10	chr3:195840171..195844762-chr3:195850259..195853821,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224652	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000252174	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13096381	0.81[AMR][1000 genomes]
rs60568302	0.86[AMR][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	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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv878173	chr3:195848264-195889626	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195835800-195853800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:195845200-195854400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:195848400-195853800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:195848400-195853800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:195848600-195853400	Weak transcription	Lung	lung
6	chr3:195848600-195853600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:195848600-195854000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:195848600-195861400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:195848800-195854000	Weak transcription	Esophagus	oesophagus
10	chr3:195849000-195853800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:195849000-195853800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:195849400-195854000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:195849600-195853800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:195849600-195853800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:195849600-195853800	Weak transcription	Fetal Intestine Large	intestine
16	chr3:195849600-195854000	Weak transcription	Fetal Intestine Small	intestine
17	chr3:195849600-195854200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:195849600-195854200	Weak transcription	Fetal Lung	lung
19	chr3:195849600-195854400	Weak transcription	Thymus	Thymus
20	chr3:195849800-195853400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:195849800-195853400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:195850000-195853800	Weak transcription	Primary T cells from cord blood	blood
23	chr3:195850200-195853200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:195850200-195854200	Weak transcription	Primary B cells from cord blood	blood
25	chr3:195850200-195854200	Weak transcription	Ovary	ovary
26	chr3:195850400-195852200	Weak transcription	Fetal Thymus	thymus
27	chr3:195850400-195853200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr3:195850400-195853400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr3:195850400-195853800	Weak transcription	HepG2	liver
30	chr3:195850400-195854200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:195850400-195854600	Weak transcription	Spleen	Spleen
32	chr3:195850600-195853000	Weak transcription	GM12878-XiMat	blood
33	chr3:195850600-195853200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:195850600-195854000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:195851200-195853400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:195851200-195853800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:195851600-195852200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:195851600-195852200	ZNF genes & repeats	K562	blood
39	chr3:195851800-195853400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:195852000-195853200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:195852000-195853200	Weak transcription	Placenta	Placenta

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