Variant report

Variant	rs17397736
Chromosome Location	chr4:78114732-78114733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78108762..78112124-chr4:78114726..78117506,3	K562	blood:
2	chr4:78077628..78079889-chr4:78114181..78117091,2	MCF-7	breast:
3	chr4:78114444..78117366-chr4:78117947..78121379,3	K562	blood:

Variant related genes	Relation type
ENSG00000138764	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13108325	0.98[EUR][1000 genomes]
rs13115931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17397972	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17398028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34171188	0.95[EUR][1000 genomes]
rs34623364	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34757592	1.00[EUR][1000 genomes]
rs36045205	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150031	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4150044	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4150052	0.88[CEU][hapmap]
rs4150067	0.95[EUR][1000 genomes]
rs6816591	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6822060	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs71607401	0.93[EUR][1000 genomes]
rs7655142	0.83[EUR][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	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1000730	chr4:78109138-78210296	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78112000-78114800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:78112000-78116200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:78112000-78117400	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:78112000-78120600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:78112200-78120600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:78113600-78118600	Weak transcription	NHEK	skin
7	chr4:78113600-78120400	Weak transcription	HMEC	breast
8	chr4:78113800-78120400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:78114200-78114800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:78114200-78114800	Enhancers	Fetal Thymus	thymus
11	chr4:78114200-78115200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:78114200-78115600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:78114200-78116200	Enhancers	Placenta	Placenta
14	chr4:78114200-78116200	Flanking Active TSS	GM12878-XiMat	blood
15	chr4:78114400-78114800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr4:78114400-78114800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr4:78114400-78114800	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr4:78114400-78114800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:78114400-78114800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr4:78114400-78115000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr4:78114400-78115200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr4:78114400-78115200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr4:78114400-78115400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr4:78114400-78115600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr4:78114400-78115600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr4:78114400-78115600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:78114400-78115800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:78114600-78114800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:78114600-78115000	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr4:78114600-78115000	Active TSS	Primary B cells from cord blood	blood
31	chr4:78114600-78115000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr4:78114600-78115000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr4:78114600-78115200	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr4:78114600-78115200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:78114600-78115200	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr4:78114600-78115200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:78114600-78115200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:78114600-78115200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr4:78114600-78115400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:78114600-78115400	Flanking Active TSS	Thymus	Thymus
41	chr4:78114600-78115800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr4:78114600-78115800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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