Variant report

Variant	rs546855791
Chromosome Location	chr1:46207231-46207232
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	chr1:46207000..46208587-chr1:46214039..46216742,2	K562	blood:
2	chr1:46151328..46153921-chr1:46205484..46208210,2	K562	blood:
3	chr1:46202156..46204427-chr1:46206183..46208440,2	K562	blood:
4	chr1:46205056..46207892-chr1:46214657..46217375,3	MCF-7	breast:
5	chr1:46205176..46209135-chr1:46209626..46211583,3	K562	blood:
6	chr1:46205176..46207911-chr1:46209798..46211583,2	K562	blood:
7	chr1:46205421..46208484-chr1:46212688..46215517,5	K562	blood:
8	chr1:46072512..46075049-chr1:46205211..46207779,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159596	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000197429	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	123 gene(s)	inside rSNPs	diseases
5	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv1010054	chr1:46144479-46320493	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv1006861	chr1:46144479-46417621	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	76 gene(s)	inside rSNPs	diseases
9	nsv1003049	chr1:46144479-46476149	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv870511	chr1:46148138-46245423	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv871233	chr1:46153203-46311275	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv1008219	chr1:46160098-46493958	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	nsv534943	chr1:46160098-46493958	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	nsv1000498	chr1:46171836-46438252	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	nsv870791	chr1:46182916-46398415	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv871023	chr1:46184300-46301182	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv998925	chr1:46184925-46353041	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
18	nsv1003986	chr1:46184925-46417621	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
19	nsv1007501	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
20	nsv534944	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
21	nsv871763	chr1:46186576-46236098	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
22	nsv1006891	chr1:46189258-46408032	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
23	nsv1009355	chr1:46189258-46463012	Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
24	nsv870626	chr1:46196813-46314170	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
25	nsv871312	chr1:46196813-46353332	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
26	esv2830426	chr1:46202361-46347367	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
27	esv3335894	chr1:46206615-46208613	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	esv2023284	chr1:46207106-46207788	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	esv3518050	chr1:46207167-46207710	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
30	esv3518045	chr1:46207180-46207698	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
31	esv3319930	chr1:46207182-46207706	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
32	esv3518046	chr1:46207203-46207636	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
33	esv3518047	chr1:46207207-46207648	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
34	esv3319928	chr1:46207216-46207676	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
35	esv4646	chr1:46207223-46207679	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
36	esv3518049	chr1:46207228-46207648	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
37	esv3518048	chr1:46207232-46207644	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46155000-46215800	Weak transcription	Small Intestine	intestine
2	chr1:46155800-46215600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:46157400-46209800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:46160800-46215400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:46163600-46215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:46174600-46215600	Weak transcription	Brain Angular Gyrus	brain
7	chr1:46174600-46215600	Weak transcription	Esophagus	oesophagus
8	chr1:46177800-46215600	Weak transcription	Gastric	stomach
9	chr1:46178000-46209200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:46178000-46209800	Weak transcription	Fetal Brain Male	brain
11	chr1:46178000-46209800	Weak transcription	Lung	lung
12	chr1:46178000-46215600	Weak transcription	Aorta	Aorta
13	chr1:46179600-46209000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:46180400-46215600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:46181800-46215600	Weak transcription	Fetal Brain Female	brain
16	chr1:46182200-46215600	Weak transcription	Left Ventricle	heart
17	chr1:46189200-46214800	Weak transcription	NHDF-Ad	bronchial
18	chr1:46189400-46207600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:46189400-46215400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:46193000-46209200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:46193400-46207600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:46193400-46208000	Weak transcription	Thymus	Thymus
23	chr1:46193600-46207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:46193600-46215400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:46193600-46215400	Weak transcription	HSMMtube	muscle
26	chr1:46193800-46207600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:46194000-46208400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:46194000-46214200	Weak transcription	Pancreas	Pancrea
29	chr1:46194000-46214800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:46194600-46207800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:46194600-46208200	Weak transcription	Fetal Stomach	stomach
32	chr1:46194600-46209200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:46194600-46209200	Weak transcription	Ovary	ovary
34	chr1:46196800-46215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:46196800-46215600	Weak transcription	NHEK	skin
36	chr1:46197000-46214800	Weak transcription	GM12878-XiMat	blood
37	chr1:46198000-46214200	Weak transcription	Right Ventricle	heart
38	chr1:46198000-46215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:46201400-46209000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:46203400-46215600	Weak transcription	Spleen	Spleen
41	chr1:46203600-46207400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:46203600-46214800	Weak transcription	NH-A	brain
43	chr1:46204200-46215600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:46204800-46209200	Weak transcription	Colonic Mucosa	Colon
45	chr1:46204800-46214800	Weak transcription	Psoas Muscle	Psoas
46	chr1:46205200-46208200	Weak transcription	Fetal Intestine Small	intestine
47	chr1:46205200-46212400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:46205200-46214800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:46205200-46215400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:46205200-46215400	Weak transcription	HepG2	liver

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