Variant report

Variant	rs3847959
Chromosome Location	chr12:120267691-120267692
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120260751..120262448-chr12:120266066..120268905,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10744743	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774514	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774515	0.87[EUR][1000 genomes]
rs10774516	0.84[EUR][1000 genomes]
rs1182807	0.86[EUR][1000 genomes]
rs203336	0.86[EUR][1000 genomes]
rs203340	0.82[EUR][1000 genomes]
rs203356	0.86[EUR][1000 genomes]
rs2107661	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs280582	0.88[EUR][1000 genomes]
rs280588	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs280589	0.84[EUR][1000 genomes]
rs372803	0.86[EUR][1000 genomes]
rs377876	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3847960	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs430998	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs435136	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs450902	0.86[EUR][1000 genomes]
rs473430	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767847	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767848	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6490270	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294469	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295984	0.80[ASN][1000 genomes]
rs7308076	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs740032	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs804709	0.93[EUR][1000 genomes];0.83[ASN][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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:120241600-120276600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:120242600-120276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:120242600-120276800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:120242600-120279000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:120242600-120279400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
10	chr12:120242800-120287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:120243200-120288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:120245200-120273000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:120245200-120276400	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:120245600-120285200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:120247000-120274600	Weak transcription	HMEC	breast
16	chr12:120247200-120274400	Weak transcription	NHEK	skin
17	chr12:120247200-120285800	Weak transcription	NHLF	lung
18	chr12:120247400-120285800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:120247800-120272800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:120253800-120272400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:120254800-120286400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:120256600-120268400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
25	chr12:120257200-120270400	Weak transcription	Fetal Stomach	stomach
26	chr12:120257400-120277800	Weak transcription	Fetal Brain Female	brain
27	chr12:120257800-120270400	Weak transcription	HepG2	liver
28	chr12:120257800-120275000	Weak transcription	K562	blood
29	chr12:120258000-120276600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:120259000-120273600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:120259200-120311800	Strong transcription	Dnd41	blood
32	chr12:120260000-120270400	Weak transcription	NHDF-Ad	bronchial
33	chr12:120260000-120280600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:120260600-120270000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:120260600-120285800	Weak transcription	NH-A	brain
36	chr12:120260800-120279200	Weak transcription	HUVEC	blood vessel
37	chr12:120261200-120268200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:120261600-120270000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:120261600-120270400	Weak transcription	Fetal Lung	lung
40	chr12:120262200-120273800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:120262200-120281200	Weak transcription	Esophagus	oesophagus
42	chr12:120262800-120269400	Strong transcription	Fetal Thymus	thymus
43	chr12:120262800-120269600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:120263000-120268800	Strong transcription	Thymus	Thymus
45	chr12:120263000-120272200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:120263000-120273800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:120263000-120279600	Weak transcription	Primary B cells from cord blood	blood
48	chr12:120264000-120269400	Strong transcription	A549	lung
49	chr12:120264800-120270000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:120265000-120268400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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