Variant report

Variant	rs839616
Chromosome Location	chr1:120261388-120261389
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120250931..120252823-chr1:120260197..120261964,2	K562	blood:
2	chr1:120251114..120252823-chr1:120259616..120261697,2	K562	blood:
3	chr1:120259179..120261862-chr20:39488876..39490638,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs541763	0.90[ASN][1000 genomes]
rs550174	0.94[ASN][1000 genomes]
rs573763	0.87[ASN][1000 genomes]
rs586650	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620741	0.86[ASN][1000 genomes]
rs636101	0.92[ASN][1000 genomes]
rs646124	0.86[ASN][1000 genomes]
rs663807	0.93[ASN][1000 genomes]
rs667770	0.94[ASN][1000 genomes]
rs839613	0.92[ASN][1000 genomes]
rs839615	0.89[ASN][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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120256000-120263800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:120256200-120266600	Weak transcription	Primary B cells from cord blood	blood
3	chr1:120256200-120267400	Weak transcription	Lung	lung
4	chr1:120256200-120271800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:120256400-120271800	Weak transcription	Gastric	stomach
6	chr1:120256400-120276800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:120256400-120284400	Weak transcription	GM12878-XiMat	blood
8	chr1:120256600-120263400	Weak transcription	Primary T cells from cord blood	blood
9	chr1:120256600-120275600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:120256800-120263800	Weak transcription	HUVEC	blood vessel
11	chr1:120256800-120266000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:120257000-120263800	Weak transcription	Aorta	Aorta
13	chr1:120257000-120266000	Weak transcription	HSMMtube	muscle
14	chr1:120257000-120271800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:120257000-120277400	Weak transcription	Fetal Heart	heart
16	chr1:120257000-120278400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:120257000-120278600	Weak transcription	HSMM	muscle
18	chr1:120257000-120282400	Weak transcription	A549	lung
19	chr1:120257200-120263200	Weak transcription	NHLF	lung
20	chr1:120257200-120287000	Weak transcription	NH-A	brain
21	chr1:120257600-120262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:120257600-120263600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:120257600-120263600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:120257600-120263800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:120257600-120264400	Weak transcription	Placenta	Placenta
26	chr1:120257600-120268000	Weak transcription	Fetal Brain Male	brain
27	chr1:120258400-120262000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:120258600-120263200	Weak transcription	HMEC	breast
29	chr1:120258600-120263400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:120258600-120263800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:120258600-120267200	Weak transcription	Fetal Brain Female	brain
32	chr1:120258600-120289200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:120258800-120261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:120258800-120261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:120258800-120263200	Weak transcription	Thymus	Thymus
36	chr1:120258800-120263400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:120258800-120263800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:120258800-120266000	Weak transcription	Esophagus	oesophagus
39	chr1:120258800-120269400	Weak transcription	Spleen	Spleen
40	chr1:120258800-120275000	Weak transcription	Right Atrium	heart
41	chr1:120259000-120262200	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:120259000-120262800	Weak transcription	Adipose Nuclei	Adipose
43	chr1:120259000-120263400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:120259000-120263400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:120259000-120263400	Weak transcription	Fetal Thymus	thymus
46	chr1:120259000-120265800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:120259200-120261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:120259200-120261800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:120259200-120262000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:120259200-120262200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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