Variant report

Variant	rs1220997
Chromosome Location	chr3:150928485-150928486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150910511..150913182-chr3:150926797..150928825,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10513394	1.00[CEU][hapmap]
rs1221004	1.00[CEU][hapmap]
rs1463725	1.00[CEU][hapmap]
rs2567324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs358969	1.00[AFR][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	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150878000-150946000	Weak transcription	Placenta	Placenta
2	chr3:150908800-150933200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:150911800-150928600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:150917000-150931600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:150919800-150933400	Weak transcription	Primary B cells from cord blood	blood
6	chr3:150921400-150929200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:150923200-150929200	Enhancers	Primary T cells from cord blood	blood
8	chr3:150923600-150928600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr3:150923800-150928600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:150923800-150928600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:150925400-150928600	Enhancers	Fetal Intestine Large	intestine
12	chr3:150925600-150928600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:150925800-150928800	Weak transcription	Brain Anterior Caudate	brain
14	chr3:150926400-150928600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr3:150926400-150929200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:150926600-150928600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:150926600-150928600	Enhancers	Fetal Intestine Small	intestine
18	chr3:150926600-150929000	Enhancers	Fetal Thymus	thymus
19	chr3:150926800-150929000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:150927200-150929600	Enhancers	Primary hematopoietic stem cells	blood
21	chr3:150927400-150928600	Enhancers	HepG2	liver
22	chr3:150927400-150928800	Enhancers	Thymus	Thymus
23	chr3:150927600-150928600	Enhancers	Liver	Liver
24	chr3:150927600-150929000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr3:150927800-150928800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:150927800-150929000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:150927800-150929200	Enhancers	Stomach Mucosa	stomach
28	chr3:150927800-150929600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:150928000-150928600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:150928000-150928600	Enhancers	Duodenum Mucosa	Duodenum
31	chr3:150928000-150928800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:150928000-150928800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:150928000-150928800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr3:150928000-150928800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:150928000-150928800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr3:150928000-150928800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr3:150928200-150928800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:150928200-150936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:150928400-150928600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr3:150928400-150928800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:150928400-150928800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr3:150928400-150928800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr3:150928400-150929000	Enhancers	Adipose Nuclei	Adipose
44	chr3:150928400-150929200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:150928400-150929200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:150928400-150929200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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