Variant report

Variant	rs7171708
Chromosome Location	chr15:59930030-59930031
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	chr15:59923114..59927076-chr15:59929959..59933582,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16941480	1.00[EUR][1000 genomes]
rs16941786	1.00[EUR][1000 genomes]
rs58234552	1.00[EUR][1000 genomes]
rs59340067	1.00[EUR][1000 genomes]
rs6151552	0.95[AFR][1000 genomes]
rs7173788	1.00[EUR][1000 genomes]
rs73433504	1.00[EUR][1000 genomes]
rs73433557	1.00[EUR][1000 genomes]
rs74019636	1.00[EUR][1000 genomes]
rs74019930	1.00[EUR][1000 genomes]
rs8023802	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1044442	chr15:59765724-59955587	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv542403	chr15:59765724-59955587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv569605	chr15:59855226-59956553	Strong transcription Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv1824522	chr15:59919844-59987181	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59905200-59931600	Weak transcription	Fetal Stomach	stomach
2	chr15:59905200-59946200	Weak transcription	Gastric	stomach
3	chr15:59909000-59930200	Weak transcription	Fetal Intestine Large	intestine
4	chr15:59912000-59932600	Weak transcription	Colonic Mucosa	Colon
5	chr15:59912200-59935000	Weak transcription	Fetal Intestine Small	intestine
6	chr15:59914800-59937800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:59917800-59930200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:59920600-59947000	Weak transcription	Small Intestine	intestine
9	chr15:59923000-59930200	Weak transcription	Osteobl	bone
10	chr15:59925000-59930200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:59925000-59936800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:59925000-59936800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:59925000-59943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:59925200-59930200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:59925400-59930200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:59925400-59930200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:59925400-59937200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr15:59925600-59931000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr15:59925600-59936600	Weak transcription	NHLF	lung
20	chr15:59925600-59937800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:59925600-59948600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr15:59925800-59930200	Weak transcription	Brain Germinal Matrix	brain
23	chr15:59925800-59930600	Weak transcription	K562	blood
24	chr15:59925800-59936600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:59925800-59943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:59926000-59930200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:59926000-59932200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:59926200-59932600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr15:59926200-59936800	Weak transcription	Fetal Brain Male	brain
30	chr15:59926200-59937000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:59926400-59930200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:59926400-59930200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:59926400-59935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:59926400-59936600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:59926600-59930200	Weak transcription	Brain Hippocampus Middle	brain
36	chr15:59926600-59936600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:59926600-59944000	Weak transcription	Fetal Kidney	kidney
38	chr15:59926600-59947600	Weak transcription	Right Ventricle	heart
39	chr15:59926600-59948000	Weak transcription	Brain Angular Gyrus	brain
40	chr15:59927000-59930200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:59927000-59930200	Weak transcription	Fetal Lung	lung
42	chr15:59927000-59930200	Weak transcription	Thymus	Thymus
43	chr15:59927000-59937000	Weak transcription	Lung	lung
44	chr15:59927200-59936600	Weak transcription	HMEC	breast
45	chr15:59927200-59948800	Weak transcription	Aorta	Aorta
46	chr15:59927400-59930200	Weak transcription	Fetal Thymus	thymus
47	chr15:59927400-59943800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:59927600-59930200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr15:59927600-59930400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:59927600-59931400	Strong transcription	Fetal Muscle Trunk	muscle

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