Variant report

Variant	rs3730251
Chromosome Location	chr4:102117083-102117084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11935869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16996716	1.00[CEU][hapmap]
rs17030994	1.00[CEU][hapmap]
rs1848116	0.85[YRI][hapmap]
rs57300146	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6532923	1.00[CEU][hapmap]
rs6836390	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73833259	1.00[ASN][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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102098600-102118600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr4:102104400-102119400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:102104400-102119600	Weak transcription	Primary T cells from cord blood	blood
4	chr4:102104400-102119600	Weak transcription	Ovary	ovary
5	chr4:102105400-102117800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:102105400-102126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:102106200-102117600	Weak transcription	Gastric	stomach
8	chr4:102106200-102121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:102107600-102126600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:102109200-102126200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:102109600-102118000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:102109600-102119400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:102109800-102122600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:102110000-102118000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:102111200-102122400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:102111800-102119600	Weak transcription	Fetal Brain Female	brain
17	chr4:102112800-102117800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:102113000-102117200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr4:102113000-102118200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:102113200-102117200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:102113200-102118600	Weak transcription	Lung	lung
22	chr4:102113200-102119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:102113200-102119800	Weak transcription	Fetal Brain Male	brain
24	chr4:102113200-102121000	Weak transcription	HSMM	muscle
25	chr4:102113200-102122400	Weak transcription	Aorta	Aorta
26	chr4:102113200-102124400	Weak transcription	Pancreas	Pancrea
27	chr4:102113400-102120400	Weak transcription	Fetal Heart	heart
28	chr4:102113400-102120800	Weak transcription	NH-A	brain
29	chr4:102113600-102119400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:102113600-102119600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:102113600-102119600	Weak transcription	Brain Angular Gyrus	brain
32	chr4:102113600-102120600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:102113600-102120800	Weak transcription	Right Ventricle	heart
34	chr4:102113600-102121400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:102113600-102122800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:102113800-102117200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr4:102113800-102117600	Weak transcription	Psoas Muscle	Psoas
38	chr4:102113800-102117600	Weak transcription	Stomach Mucosa	stomach
39	chr4:102113800-102117800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:102113800-102118000	Weak transcription	Small Intestine	intestine
41	chr4:102113800-102118200	Weak transcription	Left Ventricle	heart
42	chr4:102113800-102118400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:102113800-102118600	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:102113800-102119600	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:102113800-102119600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr4:102113800-102119600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:102113800-102119600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:102113800-102119800	Weak transcription	Fetal Kidney	kidney
49	chr4:102113800-102120400	Weak transcription	Brain Substantia Nigra	brain
50	chr4:102113800-102120600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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