Variant report

Variant	rs9841919
Chromosome Location	chr3:45993394-45993395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:45992659..45994641-chr3:46028942..46030792,2	K562	blood:
2	chr3:45992876..45995243-chr3:45997512..46000332,2	K562	blood:
3	chr3:45976449..45979237-chr3:45991973..45993587,2	K562	blood:
4	chr3:45992901..45995659-chr3:45998923..46000689,2	K562	blood:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12330199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13315494	1.00[EUR][1000 genomes]
rs13316935	1.00[EUR][1000 genomes]
rs13317076	1.00[EUR][1000 genomes]
rs2234359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28670183	1.00[EUR][1000 genomes]
rs6774011	1.00[EUR][1000 genomes]
rs7613756	1.00[EUR][1000 genomes]
rs7626225	1.00[EUR][1000 genomes]
rs7637926	1.00[EUR][1000 genomes]
rs9311389	1.00[EUR][1000 genomes]
rs9811093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9824752	1.00[EUR][1000 genomes]
rs9825221	1.00[EUR][1000 genomes]
rs9831791	1.00[EUR][1000 genomes]
rs9833683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9835366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9838832	1.00[EUR][1000 genomes]
rs9856418	1.00[EUR][1000 genomes]
rs9858301	1.00[EUR][1000 genomes]
rs9859087	1.00[EUR][1000 genomes]
rs9870657	1.00[EUR][1000 genomes]
rs9875356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9882765	1.00[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45959400-46009800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:45978800-45994400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:45980800-46013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:45981000-45993400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:45981000-45999400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
7	chr3:45982200-45999800	Strong transcription	Stomach Smooth Muscle	stomach
8	chr3:45982800-46000800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:45983200-46012400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:45984000-45994000	Weak transcription	HMEC	breast
11	chr3:45984200-45994200	Strong transcription	Liver	Liver
12	chr3:45984400-45998200	Strong transcription	Left Ventricle	heart
13	chr3:45984400-46000800	Weak transcription	Psoas Muscle	Psoas
14	chr3:45986200-45993800	Strong transcription	Adipose Nuclei	Adipose
15	chr3:45986200-45998200	Strong transcription	Brain Substantia Nigra	brain
16	chr3:45986200-46006800	Strong transcription	Fetal Intestine Small	intestine
17	chr3:45986200-46007600	Strong transcription	Fetal Stomach	stomach
18	chr3:45986400-45997000	Strong transcription	Pancreas	Pancrea
19	chr3:45986400-45997200	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr3:45986400-46001400	Weak transcription	A549	lung
21	chr3:45986400-46006200	Strong transcription	Fetal Muscle Leg	muscle
22	chr3:45986400-46006800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr3:45986400-46007600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:45986400-46012200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:45986600-45997000	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr3:45986600-45997000	Strong transcription	Brain Angular Gyrus	brain
28	chr3:45986600-45997400	Strong transcription	Brain Cingulate Gyrus	brain
29	chr3:45986600-46009000	Strong transcription	Primary B cells from cord blood	blood
30	chr3:45986600-46012000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:45986800-46012200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr3:45987000-45997600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:45987200-46013600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:45987600-45993600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr3:45987600-45998200	Genic enhancers	Primary T cells fromperipheralblood	blood
39	chr3:45987600-46002000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:45987600-46007800	Strong transcription	K562	blood
41	chr3:45987800-45995600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:45987800-45997400	Strong transcription	Brain Anterior Caudate	brain
43	chr3:45987800-45997600	Strong transcription	Brain Hippocampus Middle	brain
44	chr3:45987800-46001400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:45987800-46012200	Strong transcription	HepG2	liver
46	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:45988000-45994200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:45988000-45997000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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