Variant report

Variant	rs342441
Chromosome Location	chr4:88071221-88071222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88066236..88067961-chr4:88070218..88071867,2	K562	blood:
2	chr4:87928676..87930653-chr4:88070538..88073339,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10016360	0.80[AFR][1000 genomes]
rs1552146	0.80[AFR][1000 genomes]
rs6419118	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs6852873	0.88[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
6	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv879526	chr4:88062611-88087832	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88019000-88072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:88053600-88082000	Weak transcription	HSMM	muscle
3	chr4:88055200-88102800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:88055400-88072200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:88055600-88072200	Weak transcription	Fetal Kidney	kidney
6	chr4:88056600-88090600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:88057800-88072600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:88057800-88073800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:88057800-88074000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:88058200-88082400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:88058200-88109000	Weak transcription	Lung	lung
12	chr4:88058400-88074000	Weak transcription	Hela-S3	cervix
13	chr4:88058600-88071800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:88058600-88084200	Weak transcription	Brain Anterior Caudate	brain
15	chr4:88058800-88073400	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:88058800-88082400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:88058800-88088400	Weak transcription	Thymus	Thymus
18	chr4:88058800-88092200	Weak transcription	Colonic Mucosa	Colon
19	chr4:88059000-88086600	Weak transcription	A549	lung
20	chr4:88059200-88071400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:88059200-88073600	Weak transcription	Pancreas	Pancrea
22	chr4:88059200-88087800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:88059200-88088000	Weak transcription	Fetal Stomach	stomach
24	chr4:88059200-88100800	Weak transcription	Osteobl	bone
25	chr4:88061200-88082200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:88061400-88084000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:88061400-88109400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:88062600-88072200	Weak transcription	NHDF-Ad	bronchial
29	chr4:88062600-88084400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:88063000-88090800	Weak transcription	Left Ventricle	heart
31	chr4:88063000-88090800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:88063200-88071600	Weak transcription	Fetal Lung	lung
33	chr4:88063200-88088400	Weak transcription	Ovary	ovary
34	chr4:88063200-88097400	Weak transcription	Small Intestine	intestine
35	chr4:88063200-88102000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:88063800-88073800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:88063800-88083600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:88063800-88087800	Weak transcription	Primary T cells from cord blood	blood
39	chr4:88064200-88082800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:88064200-88090000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:88064200-88098800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:88064200-88100400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:88064400-88071400	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:88064400-88084400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:88064400-88092600	Weak transcription	HUVEC	blood vessel
46	chr4:88065600-88088200	Weak transcription	GM12878-XiMat	blood
47	chr4:88066000-88081200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr4:88066200-88097200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:88066200-88101000	Weak transcription	HMEC	breast
50	chr4:88066600-88071800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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