Variant report

Variant	rs60350276
Chromosome Location	chr3:53377008-53377009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53372908..53377239-chr3:53377354..53382827,7	K562	blood:
2	chr3:53373719..53376064-chr3:53376778..53378854,2	K562	blood:
3	chr3:53274794..53276591-chr3:53376473..53378155,2	K562	blood:

Variant related genes	Relation type
ENSG00000163931	Chromatin interaction
ENSG00000162290	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11919567	1.00[AMR][1000 genomes]
rs11920772	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11921961	1.00[AMR][1000 genomes]
rs11925433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030942	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17052997	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17053116	1.00[AMR][1000 genomes]
rs58338691	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58488663	1.00[AMR][1000 genomes]
rs59254994	1.00[AMR][1000 genomes]
rs59437060	1.00[AMR][1000 genomes]
rs60675461	1.00[AMR][1000 genomes]
rs61299945	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6787817	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs68140464	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954817	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954825	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964389	1.00[AMR][1000 genomes]
rs72964394	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53338200-53380200	Weak transcription	Fetal Brain Male	brain
2	chr3:53346200-53378600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:53346600-53380600	Weak transcription	Spleen	Spleen
4	chr3:53352800-53380600	Weak transcription	Esophagus	oesophagus
5	chr3:53353000-53380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:53358200-53378800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:53358400-53380600	Weak transcription	Lung	lung
8	chr3:53360600-53380400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:53360800-53380600	Weak transcription	Gastric	stomach
10	chr3:53361400-53380200	Weak transcription	Colonic Mucosa	Colon
11	chr3:53361600-53379000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:53362800-53378200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:53362800-53380400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:53363200-53378400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:53363200-53380600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:53363400-53380400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:53363600-53378800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:53363800-53379000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:53364200-53377800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:53364400-53378600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr3:53365000-53378800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:53365400-53377600	Strong transcription	Osteobl	bone
23	chr3:53365400-53378200	Strong transcription	Fetal Lung	lung
24	chr3:53365400-53378600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr3:53365600-53377800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:53365600-53378800	Strong transcription	Placenta	Placenta
27	chr3:53365600-53379200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:53366200-53379800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:53366200-53380200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:53367200-53378800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr3:53367400-53378400	Strong transcription	Primary B cells from cord blood	blood
32	chr3:53367600-53377800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:53367800-53378400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:53369600-53378800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:53370000-53377800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:53370000-53378400	Strong transcription	Fetal Thymus	thymus
37	chr3:53370200-53378400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:53370400-53378400	Strong transcription	Primary T cells from cord blood	blood
39	chr3:53370400-53378600	Strong transcription	HSMM	muscle
40	chr3:53370600-53378200	Strong transcription	Dnd41	blood
41	chr3:53370600-53378800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:53370600-53380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:53371200-53379000	Strong transcription	NHDF-Ad	bronchial
44	chr3:53371400-53379000	Strong transcription	Hela-S3	cervix
45	chr3:53371600-53377600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:53371600-53378800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:53371800-53380200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:53372400-53379800	Weak transcription	HSMMtube	muscle
49	chr3:53373000-53379000	Strong transcription	NH-A	brain
50	chr3:53373200-53378800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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