Variant report

Variant	rs4916234
Chromosome Location	chr1:171529485-171529486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171524993..171527275-chr1:171529233..171532217,2	K562	blood:
2	chr1:171529417..171532285-chr1:171544037..171546215,3	K562	blood:
3	chr1:171527947..171533279-chr1:171534961..171539574,5	K562	blood:
4	chr1:171529417..171533127-chr1:171543800..171546215,3	K562	blood:
5	chr1:171528756..171533659-chr1:171534422..171537081,4	MCF-7	breast:
6	chr1:171528043..171532235-chr1:171534961..171538235,5	K562	blood:
7	chr1:171524993..171527170-chr1:171529233..171532079,2	K562	blood:

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10753138	0.80[AFR][1000 genomes]
rs2056940	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2207194	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4916397	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685179	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs764206	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood
2	chr1:171521600-171532400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:171521600-171563800	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr1:171521800-171529600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:171521800-171562800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:171522000-171529600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:171522600-171531400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:171522600-171564000	Strong transcription	Duodenum Mucosa	Duodenum
9	chr1:171522800-171564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:171522800-171564200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr1:171522800-171564400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:171523200-171531600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:171523800-171531600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:171524200-171532200	Strong transcription	Brain Substantia Nigra	brain
15	chr1:171524200-171537800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:171524200-171537800	Strong transcription	Brain Anterior Caudate	brain
17	chr1:171524200-171538200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:171524200-171549600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:171524200-171562800	Strong transcription	Liver	Liver
20	chr1:171524200-171564400	Strong transcription	Adipose Nuclei	Adipose
21	chr1:171524400-171529600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr1:171524400-171530400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:171524400-171531600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:171524400-171531600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:171524400-171531600	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:171524400-171531800	Strong transcription	Placenta	Placenta
27	chr1:171524400-171532200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:171524400-171533400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr1:171524400-171537600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr1:171524400-171538200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:171524400-171538400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:171524400-171541000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:171524400-171549000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:171524400-171549000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:171524400-171553000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:171524400-171558200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:171524400-171563600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:171524400-171564400	Strong transcription	Fetal Thymus	thymus
39	chr1:171524400-171564600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:171524400-171566400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:171524600-171531600	Strong transcription	Brain Angular Gyrus	brain
42	chr1:171524600-171532400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:171524600-171537200	Strong transcription	Brain Hippocampus Middle	brain
44	chr1:171524600-171558600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:171524800-171530600	Strong transcription	Colon Smooth Muscle	Colon
46	chr1:171524800-171530600	Strong transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:171524800-171531400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:171524800-171531400	Strong transcription	Left Ventricle	heart
49	chr1:171524800-171532400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:171524800-171532600	Strong transcription	Rectal Mucosa Donor 31	rectum

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