Variant report

Variant	rs61954442
Chromosome Location	chr12:122882370-122882371
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122880690..122882401-chr12:123012980..123014769,2	K562	blood:
2	chr12:122882140..122883933-chr12:122900463..122902551,2	K562	blood:
3	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:
4	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:
5	chr12:122880014..122886193-chr12:123009799..123012848,10	K562	blood:
6	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:
7	chr12:122864255..122866125-chr12:122882192..122884983,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111011	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10846839	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10846854	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10846879	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10846896	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057562	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11057787	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057801	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11057810	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11057832	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057894	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11057934	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058001	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11058009	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11058010	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11058043	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11058062	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11058064	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11058099	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11058136	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11058143	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11058144	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11058159	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11058186	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11058206	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11058232	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11058237	0.87[AMR][1000 genomes]
rs12229152	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12229345	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424715	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12427143	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12427421	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2173581	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3817012	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4758661	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4758672	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4758694	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4758697	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56861120	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56863652	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58062133	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58766840	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58853108	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954399	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61954405	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61954416	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61954418	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61954421	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61954422	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61954424	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61954425	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61954427	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61954441	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61954447	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61954450	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8181750	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs882969	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
2	chr12:122856400-122884200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:122860600-122905000	Weak transcription	Brain Germinal Matrix	brain
4	chr12:122862400-122883800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:122862600-122883800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:122862800-122895600	Weak transcription	Small Intestine	intestine
7	chr12:122863000-122883600	Weak transcription	K562	blood
8	chr12:122863000-122883800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:122863200-122883800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:122863400-122883800	Weak transcription	Brain Anterior Caudate	brain
11	chr12:122863400-122884000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:122863400-122884200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:122863400-122884600	Weak transcription	Ovary	ovary
14	chr12:122863400-122897400	Weak transcription	Fetal Brain Female	brain
15	chr12:122863400-122897800	Weak transcription	Brain Substantia Nigra	brain
16	chr12:122863800-122883800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:122863800-122905000	Weak transcription	Dnd41	blood
18	chr12:122864000-122883800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:122864200-122884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:122864400-122883800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:122865200-122883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:122865200-122885000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:122865400-122883800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:122866400-122883600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:122866600-122883800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:122866600-122883800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:122866600-122883800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:122866600-122884000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:122866600-122884000	Weak transcription	Spleen	Spleen
30	chr12:122866600-122888400	Weak transcription	Gastric	stomach
31	chr12:122867000-122884000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:122867000-122885000	Weak transcription	Esophagus	oesophagus
33	chr12:122867200-122883800	Weak transcription	Fetal Intestine Large	intestine
34	chr12:122868200-122883600	Weak transcription	HSMM	muscle
35	chr12:122870000-122884200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:122870200-122883800	Weak transcription	GM12878-XiMat	blood
37	chr12:122870400-122883800	Weak transcription	HSMMtube	muscle
38	chr12:122870400-122884000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:122870800-122884000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:122871200-122883800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:122871200-122884200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:122871600-122883800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:122874000-122883600	Weak transcription	Hela-S3	cervix
44	chr12:122874600-122883800	Weak transcription	Fetal Intestine Small	intestine
45	chr12:122874600-122883800	Weak transcription	Left Ventricle	heart
46	chr12:122874600-122884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:122875600-122883600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:122877600-122883600	Weak transcription	Right Ventricle	heart
49	chr12:122878400-122883800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:122878400-122884000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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