Variant report

Variant	rs563734198
Chromosome Location	chr1:46190337-46190338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46151121..46153857-chr1:46186664..46190969,5	K562	blood:

Variant related genes	Relation type
ENSG00000159596	Chromatin interaction
ENSG00000159592	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46154600-46206600	Weak transcription	Brain Substantia Nigra	brain
2	chr1:46154800-46192600	Weak transcription	Pancreas	Pancrea
3	chr1:46155000-46215800	Weak transcription	Small Intestine	intestine
4	chr1:46155600-46204600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:46155800-46215600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:46156800-46203800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:46157400-46209800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:46159800-46194800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:46160800-46215400	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:46161000-46196200	Weak transcription	NHEK	skin
11	chr1:46161200-46192800	Weak transcription	Spleen	Spleen
12	chr1:46161200-46196000	Weak transcription	GM12878-XiMat	blood
13	chr1:46161200-46206600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:46161400-46192000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:46162200-46192600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:46162600-46191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:46163600-46196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:46163600-46197400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:46163600-46215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:46165600-46207000	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:46174600-46192600	Weak transcription	Thymus	Thymus
22	chr1:46174600-46192800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:46174600-46206400	Weak transcription	Brain Germinal Matrix	brain
24	chr1:46174600-46215600	Weak transcription	Brain Angular Gyrus	brain
25	chr1:46174600-46215600	Weak transcription	Esophagus	oesophagus
26	chr1:46175000-46196400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:46177800-46192800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:46177800-46215600	Weak transcription	Gastric	stomach
29	chr1:46178000-46192600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:46178000-46195800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:46178000-46195800	Weak transcription	Fetal Kidney	kidney
32	chr1:46178000-46209200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:46178000-46209800	Weak transcription	Fetal Brain Male	brain
34	chr1:46178000-46209800	Weak transcription	Lung	lung
35	chr1:46178000-46215600	Weak transcription	Aorta	Aorta
36	chr1:46178400-46192000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:46179600-46206400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:46179600-46209000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:46180200-46192000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:46180400-46192600	Weak transcription	Fetal Thymus	thymus
41	chr1:46180400-46215600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:46180800-46193400	Weak transcription	Dnd41	blood
43	chr1:46181200-46191800	Weak transcription	Fetal Stomach	stomach
44	chr1:46181600-46192800	Weak transcription	Placenta	Placenta
45	chr1:46181800-46215600	Weak transcription	Fetal Brain Female	brain
46	chr1:46182000-46192400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:46182000-46192800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:46182000-46193200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:46182000-46203200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:46182000-46206600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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