Variant report

Variant	rs60356687
Chromosome Location	chr3:142722929-142722930
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr3:142722840-142723688	K562	blood:	n/a	n/a
2	ZNF384	chr3:142722919-142723596	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:142295888..142299099-chr3:142720440..142723490,3	K562	blood:
2	chr3:142719011..142720863-chr3:142722062..142723581,2	MCF-7	breast:
3	chr3:142647858..142649587-chr3:142722010..142723590,2	K562	blood:

Variant related genes	Relation type
ENSG00000268129	TF binding region
ENSG00000175054	Chromatin interaction
ENSG00000163714	Chromatin interaction
ENSG00000268129	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10935476	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917259	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11925953	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16852909	0.94[ASN][1000 genomes]
rs17557349	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17633378	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1869894	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2124544	0.82[ASN][1000 genomes]
rs2173599	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353407	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59510635	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73157700	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9821734	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142718200-142725000	Active TSS	K562	blood
2	chr3:142718800-142723000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr3:142719200-142723400	Active TSS	GM12878-XiMat	blood
4	chr3:142721200-142723200	Active TSS	HepG2	liver
5	chr3:142721200-142727800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:142721400-142735800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:142721600-142725200	Weak transcription	Spleen	Spleen
8	chr3:142721600-142727400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:142721600-142728200	Weak transcription	Pancreas	Pancrea
10	chr3:142721600-142739400	Weak transcription	Lung	lung
11	chr3:142721800-142723000	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:142721800-142723400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:142721800-142724200	Enhancers	Fetal Brain Male	brain
14	chr3:142721800-142724800	Weak transcription	Right Atrium	heart
15	chr3:142721800-142727600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:142721800-142727600	Weak transcription	Left Ventricle	heart
17	chr3:142721800-142728200	Weak transcription	Gastric	stomach
18	chr3:142721800-142730800	Weak transcription	Placenta	Placenta
19	chr3:142721800-142734800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:142721800-142736400	Weak transcription	Ovary	ovary
21	chr3:142721800-142739200	Weak transcription	Colonic Mucosa	Colon
22	chr3:142721800-142761800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr3:142722000-142723000	Enhancers	Fetal Intestine Small	intestine
24	chr3:142722000-142723200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:142722000-142723200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:142722000-142723200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:142722000-142723200	Weak transcription	Small Intestine	intestine
28	chr3:142722000-142723400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:142722000-142723400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr3:142722000-142723600	Enhancers	Colon Smooth Muscle	Colon
31	chr3:142722000-142723800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:142722000-142725000	Enhancers	Liver	Liver
33	chr3:142722000-142725800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:142722000-142726200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:142722000-142726400	Weak transcription	Thymus	Thymus
36	chr3:142722000-142727400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr3:142722000-142727400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr3:142722000-142729600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr3:142722000-142733000	Weak transcription	Brain Anterior Caudate	brain
40	chr3:142722000-142735800	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:142722000-142735800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:142722000-142737000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:142722000-142739000	Weak transcription	Right Ventricle	heart
44	chr3:142722000-142742400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:142722200-142723000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:142722200-142723000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr3:142722200-142723200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr3:142722200-142723800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:142722200-142723800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:142722200-142724000	Enhancers	Primary B cells from cord blood	blood

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