Variant report

Variant	rs284176
Chromosome Location	chr1:92223976-92223977
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	chr1:92221438..92225438-chr1:92226162..92228913,3	K562	blood:
2	chr1:92222836..92226137-chr1:92226478..92228913,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs284174	0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs284175	0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
5	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
6	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
7	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
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv1826229	chr1:92215725-92233227	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers 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	15 gene(s)	inside rSNPs	diseases
15	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs284176	GEMIN8P4	cis	cerebellum	SCAN
rs284176	YME1L1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92197600-92230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:92198200-92224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:92211800-92235600	Weak transcription	Fetal Kidney	kidney
6	chr1:92213000-92224000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:92213800-92235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:92215200-92232400	Weak transcription	A549	lung
9	chr1:92216800-92241800	Weak transcription	Aorta	Aorta
10	chr1:92217000-92226200	Weak transcription	Fetal Brain Male	brain
11	chr1:92217200-92230200	Weak transcription	Pancreas	Pancrea
12	chr1:92217400-92232400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:92217600-92230200	Weak transcription	Hela-S3	cervix
14	chr1:92217800-92225000	Weak transcription	Brain Angular Gyrus	brain
15	chr1:92217800-92247800	Weak transcription	Small Intestine	intestine
16	chr1:92218000-92224600	Weak transcription	Brain Anterior Caudate	brain
17	chr1:92218200-92224000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:92218200-92225000	Strong transcription	HepG2	liver
19	chr1:92219000-92226600	Genic enhancers	NHDF-Ad	bronchial
20	chr1:92219200-92224200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:92219400-92227600	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:92219400-92238200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:92220200-92229000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:92220200-92229200	Weak transcription	Osteobl	bone
25	chr1:92220400-92230000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:92220400-92234000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:92220600-92224000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:92220600-92224200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:92220600-92226200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:92220600-92255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:92221000-92224400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:92221000-92224600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:92221000-92248000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:92221800-92224000	Weak transcription	Fetal Stomach	stomach
35	chr1:92221800-92224800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:92221800-92225200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:92221800-92225400	Weak transcription	Psoas Muscle	Psoas
38	chr1:92222000-92226400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:92222200-92226400	Weak transcription	Fetal Heart	heart
40	chr1:92222200-92231000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:92223000-92224200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:92223000-92225000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:92223000-92227200	Enhancers	Liver	Liver
44	chr1:92223200-92224800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:92223200-92228000	Enhancers	Colon Smooth Muscle	Colon
46	chr1:92223400-92224000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:92223400-92224000	Enhancers	Lung	lung
48	chr1:92223400-92224000	Enhancers	HSMMtube	muscle
49	chr1:92223400-92224200	Genic enhancers	Fetal Lung	lung
50	chr1:92223400-92224200	Genic enhancers	Spleen	Spleen

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