Variant report

Variant	rs57121950
Chromosome Location	chr1:46431984-46431985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46424562..46426548-chr1:46429880..46432547,2	K562	blood:
2	chr1:46431686..46433580-chr1:46435940..46437552,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086015	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17102066	1.00[AMR][1000 genomes]
rs2275425	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41378047	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4297232	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57402001	1.00[AMR][1000 genomes]
rs57959845	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57991520	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58888694	1.00[AMR][1000 genomes]
rs59669845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59768249	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59919818	1.00[AMR][1000 genomes]
rs59974520	1.00[AMR][1000 genomes]
rs60789947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60933200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61169182	1.00[AMR][1000 genomes]
rs61178863	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv546158	chr1:46216575-46495434	Flanking Active TSS Weak transcription Active TSS Enhancers 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	30 gene(s)	inside rSNPs	diseases
12	nsv870911	chr1:46216575-46498375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
13	nsv431268	chr1:46223080-46495480	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv524147	chr1:46236098-46438076	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1015136	chr1:46244432-46439533	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
16	nsv1003517	chr1:46244432-46609881	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats 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 target site	39 gene(s)	inside rSNPs	diseases
17	nsv1007759	chr1:46248667-46493959	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv534945	chr1:46248667-46493959	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv916232	chr1:46248686-46493918	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription 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	16 gene(s)	inside rSNPs	diseases
20	nsv1009527	chr1:46286329-46520127	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
21	nsv546161	chr1:46311275-46498375	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv1009474	chr1:46320433-46557734	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
23	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers 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	72 gene(s)	inside rSNPs	diseases
24	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	72 gene(s)	inside rSNPs	diseases
25	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
26	nsv829737	chr1:46352900-46506424	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	nsv1000557	chr1:46383876-46591182	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr1:46420000-46435000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:46420200-46434800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:46420200-46435000	Weak transcription	Right Atrium	heart
4	chr1:46420200-46436800	Weak transcription	Lung	lung
5	chr1:46420200-46437000	Weak transcription	Esophagus	oesophagus
6	chr1:46420200-46437000	Weak transcription	Gastric	stomach
7	chr1:46420200-46440200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:46420400-46434800	Weak transcription	Colonic Mucosa	Colon
9	chr1:46420400-46436800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:46420400-46437600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:46420400-46443000	Weak transcription	Fetal Lung	lung
12	chr1:46420600-46434800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:46420600-46436600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:46420600-46443000	Weak transcription	Adipose Nuclei	Adipose
15	chr1:46420600-46455800	Weak transcription	HUVEC	blood vessel
16	chr1:46420800-46434200	Weak transcription	NHLF	lung
17	chr1:46420800-46434400	Weak transcription	Stomach Mucosa	stomach
18	chr1:46420800-46434800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:46420800-46437600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:46420800-46437800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:46420800-46439800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:46420800-46439800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:46420800-46444600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:46420800-46445200	Weak transcription	Pancreas	Pancrea
25	chr1:46421000-46434400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:46421000-46437000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:46423000-46436800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:46423400-46435000	Weak transcription	Brain Germinal Matrix	brain
29	chr1:46423600-46437600	Weak transcription	NHEK	skin
30	chr1:46423600-46440400	Weak transcription	HMEC	breast
31	chr1:46423800-46439400	Weak transcription	Thymus	Thymus
32	chr1:46424800-46437800	Weak transcription	Spleen	Spleen
33	chr1:46425200-46444800	Weak transcription	Fetal Kidney	kidney
34	chr1:46425200-46444800	Weak transcription	NH-A	brain
35	chr1:46425200-46446400	Weak transcription	GM12878-XiMat	blood
36	chr1:46426600-46434600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:46426600-46434800	Weak transcription	Fetal Intestine Small	intestine
38	chr1:46426600-46436800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:46426600-46437600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:46426800-46434800	Weak transcription	Small Intestine	intestine
41	chr1:46426800-46434800	Weak transcription	HSMMtube	muscle
42	chr1:46426800-46435000	Weak transcription	Fetal Stomach	stomach
43	chr1:46426800-46435400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:46426800-46436800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:46426800-46436800	Weak transcription	Ovary	ovary
46	chr1:46426800-46437000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:46426800-46437600	Weak transcription	Primary T cells from cord blood	blood
48	chr1:46426800-46437600	Weak transcription	Aorta	Aorta
49	chr1:46426800-46441200	Weak transcription	Primary B cells from cord blood	blood
50	chr1:46426800-46460000	Weak transcription	Psoas Muscle	Psoas

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