Variant report

Variant	rs923378
Chromosome Location	chr1:92202883-92202884
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92198152..92200213-chr1:92201193..92206399,7	K562	blood:
2	chr1:92202754..92203402-chr1:92392489..92393086,2	MCF-7	breast:
3	chr1:92197202..92203288-chr1:92206365..92210533,5	K562	blood:
4	chr1:92196960..92199922-chr1:92201744..92205146,4	K562	blood:

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

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

rs_ID	r²[population]
rs10874915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11466579	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11579207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11582616	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12403389	1.00[CHB][hapmap]
rs13374915	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306886	0.87[JPT][hapmap]
rs55996125	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6677523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92191800-92204000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:92197000-92215200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:92197200-92215400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:92197600-92203000	Enhancers	Fetal Intestine Small	intestine
5	chr1:92197600-92203400	Enhancers	Fetal Intestine Large	intestine
6	chr1:92197600-92230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:92197800-92211000	Weak transcription	Colonic Mucosa	Colon
8	chr1:92198000-92210400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:92198200-92206600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:92198200-92224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:92198400-92207000	Weak transcription	Gastric	stomach
12	chr1:92198400-92207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:92198400-92210400	Weak transcription	HUVEC	blood vessel
14	chr1:92198600-92204400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:92198600-92207600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:92198800-92203800	Enhancers	Fetal Kidney	kidney
17	chr1:92199000-92203200	Genic enhancers	K562	blood
18	chr1:92199000-92206200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:92199200-92218600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:92199400-92219000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:92199600-92204200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:92200400-92203200	Enhancers	Liver	Liver
23	chr1:92200600-92205000	Genic enhancers	HepG2	liver
24	chr1:92200800-92203000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:92200800-92203400	Enhancers	Fetal Lung	lung
26	chr1:92201000-92205200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:92201000-92208600	Weak transcription	Small Intestine	intestine
28	chr1:92201200-92203400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:92201200-92203400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:92201200-92219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:92201400-92203400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:92201400-92217600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:92201800-92203200	Enhancers	Psoas Muscle	Psoas
34	chr1:92201800-92203200	Flanking Active TSS	Hela-S3	cervix
35	chr1:92201800-92203400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:92201800-92203400	Enhancers	Left Ventricle	heart
37	chr1:92201800-92203400	Enhancers	Lung	lung
38	chr1:92202000-92203000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:92202000-92203000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr1:92202000-92203200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:92202000-92203400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:92202000-92203400	Enhancers	HMEC	breast
43	chr1:92202000-92203400	Enhancers	HSMM	muscle
44	chr1:92202000-92203400	Enhancers	HSMMtube	muscle
45	chr1:92202200-92203000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:92202200-92203000	Flanking Active TSS	NH-A	brain
47	chr1:92202200-92203000	Flanking Active TSS	Osteobl	bone
48	chr1:92202200-92203200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:92202200-92203200	Enhancers	Brain Anterior Caudate	brain
50	chr1:92202200-92203200	Flanking Active TSS	Colon Smooth Muscle	Colon

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