Variant report

Variant	rs61973188
Chromosome Location	chr14:21907194-21907195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21903199..21908176-chr14:21922150..21927422,17	MCF-7	breast:
2	chr14:21896199..21899132-chr14:21906380..21908136,2	K562	blood:
3	chr14:21904171..21908174-chr14:21922677..21925847,6	K562	blood:
4	chr14:21906849..21909537-chr14:21910523..21912102,2	MCF-7	breast:
5	chr14:21903666..21907303-chr14:21944223..21946943,4	K562	blood:
6	chr14:21903062..21910356-chr14:21920914..21926084,11	K562	blood:

Variant related genes	Relation type
ENSG00000263621	Chromatin interaction
ENSG00000129472	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000092203	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs17104027	1.00[AMR][1000 genomes]
rs17105120	0.81[EUR][1000 genomes]
rs45540636	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs45618735	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56085953	0.81[EUR][1000 genomes]
rs57764234	0.94[EUR][1000 genomes]
rs57968228	0.81[EUR][1000 genomes]
rs58673747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58981052	0.94[EUR][1000 genomes]
rs59578678	1.00[AMR][1000 genomes]
rs60262326	0.94[EUR][1000 genomes]
rs61739513	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61752837	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61971517	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61971518	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61971519	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61971520	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61971523	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61971524	0.81[EUR][1000 genomes]
rs61971525	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61973163	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61973164	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61973165	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61973169	0.81[EUR][1000 genomes]
rs61973170	0.81[EUR][1000 genomes]
rs61973172	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61973173	0.81[EUR][1000 genomes]
rs61973174	0.81[EUR][1000 genomes]
rs61973175	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61973178	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61973179	0.81[EUR][1000 genomes]
rs61973181	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61973182	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61973183	0.81[EUR][1000 genomes]
rs61973186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61973189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61973190	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61973191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61973192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61973193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61973194	0.89[AFR][1000 genomes]
rs61973210	1.00[AMR][1000 genomes]
rs61977518	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61977520	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61977522	1.00[AMR][1000 genomes]
rs61977523	1.00[AMR][1000 genomes]
rs61977524	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7141803	0.81[EUR][1000 genomes]
rs7160222	0.94[EUR][1000 genomes]
rs8006302	0.94[EUR][1000 genomes]
rs8016474	0.81[EUR][1000 genomes]
rs8022558	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8023081	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9944063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21905600-21910400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:21906000-21909200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:21906000-21910400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:21906000-21923400	Weak transcription	Aorta	Aorta
5	chr14:21906200-21907200	Weak transcription	K562	blood
6	chr14:21906200-21907400	Weak transcription	A549	lung
7	chr14:21906200-21908400	Weak transcription	Brain Angular Gyrus	brain
8	chr14:21906200-21908800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:21906200-21908800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:21906200-21908800	Weak transcription	Ovary	ovary
11	chr14:21906200-21908800	Weak transcription	Right Ventricle	heart
12	chr14:21906200-21909000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:21906200-21909000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:21906200-21909000	Weak transcription	Esophagus	oesophagus
15	chr14:21906200-21909000	Weak transcription	NHEK	skin
16	chr14:21906200-21909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:21906200-21910000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:21906200-21912000	Weak transcription	Primary B cells from cord blood	blood
19	chr14:21906200-21914800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:21906200-21916400	Weak transcription	GM12878-XiMat	blood
21	chr14:21906200-21916600	Weak transcription	Small Intestine	intestine
22	chr14:21906200-21917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:21906200-21917600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:21906200-21917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:21906200-21917600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:21906200-21917600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:21906200-21917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:21906200-21918000	Weak transcription	HUVEC	blood vessel
29	chr14:21906200-21918600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:21906200-21918600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:21906200-21918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:21906200-21918600	Weak transcription	NH-A	brain
33	chr14:21906200-21919800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:21906200-21921200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:21906200-21921200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr14:21906200-21921200	Weak transcription	Fetal Brain Female	brain
37	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:21906200-21921400	Weak transcription	Hela-S3	cervix
40	chr14:21906200-21921600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:21906200-21921600	Weak transcription	NHLF	lung
42	chr14:21906200-21922000	Weak transcription	Psoas Muscle	Psoas
43	chr14:21906200-21922400	Weak transcription	Right Atrium	heart
44	chr14:21906200-21922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:21906200-21922400	Weak transcription	Osteobl	bone
46	chr14:21906200-21923000	Weak transcription	Thymus	Thymus
47	chr14:21906200-21923000	Weak transcription	HSMMtube	muscle
48	chr14:21906400-21907200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:21906400-21908600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:21906400-21908800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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