Variant report

Variant	rs6434189
Chromosome Location	chr2:187465724-187465725
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187465200..187467213-chr2:187503920..187506563,2	K562	blood:
2	chr2:187465660..187469278-chr2:187474543..187476426,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10168089	0.92[AFR][1000 genomes]
rs10198568	0.92[AFR][1000 genomes]
rs1451872	0.85[AFR][1000 genomes]
rs1451873	1.00[AFR][1000 genomes]
rs1869029	0.92[AFR][1000 genomes]
rs2119864	0.92[AFR][1000 genomes]
rs2230616	0.91[AFR][1000 genomes]
rs2595393	0.91[AFR][1000 genomes]
rs3843325	0.92[AFR][1000 genomes]
rs6434191	0.92[AFR][1000 genomes]
rs6733148	0.92[AFR][1000 genomes]
rs7577982	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1014203	chr2:187413781-187477586	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv536083	chr2:187413781-187477586	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv2756507	chr2:187416494-187470494	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv2756956	chr2:187416599-187492742	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv818105	chr2:187423298-187481835	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv2753217	chr2:187424494-187470494	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187456000-187468400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:187456000-187470600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:187456000-187488200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:187456200-187468000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:187456200-187469600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:187456200-187508600	Weak transcription	Esophagus	oesophagus
7	chr2:187456200-187533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:187456400-187466600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:187456400-187466800	Weak transcription	Placenta	Placenta
10	chr2:187456400-187469600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:187456400-187469800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:187456400-187488200	Weak transcription	Fetal Thymus	thymus
13	chr2:187456400-187504000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:187456600-187467600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:187456600-187469400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:187456600-187469600	Weak transcription	Primary T cells from cord blood	blood
17	chr2:187456600-187514000	Weak transcription	Thymus	Thymus
18	chr2:187456600-187520000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:187456800-187468000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:187456800-187468000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:187456800-187469200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:187456800-187493400	Weak transcription	Brain Germinal Matrix	brain
23	chr2:187456800-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:187457000-187466600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:187457000-187466600	Weak transcription	Fetal Intestine Small	intestine
26	chr2:187457000-187467000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:187457200-187466800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:187457200-187468600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:187457200-187469400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:187457200-187469600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:187457200-187506000	Weak transcription	Liver	Liver
32	chr2:187457200-187533800	Weak transcription	Spleen	Spleen
33	chr2:187457400-187466800	Weak transcription	Fetal Intestine Large	intestine
34	chr2:187457400-187469600	Weak transcription	Right Atrium	heart
35	chr2:187457400-187472200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:187457600-187467000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:187458000-187511400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:187458000-187529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:187458600-187477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:187459400-187466600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:187459400-187469600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:187459400-187470800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:187459400-187505600	Weak transcription	NHLF	lung
44	chr2:187460200-187467000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:187460200-187468800	Weak transcription	Psoas Muscle	Psoas
46	chr2:187460200-187469600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:187460200-187469600	Weak transcription	Fetal Lung	lung
48	chr2:187460200-187469600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:187460200-187469600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:187460200-187477200	Weak transcription	GM12878-XiMat	blood

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