Variant report

Variant	rs2230424
Chromosome Location	chr16:31367318-31367319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31364585..31367756-chr16:31369594..31371710,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGAX-2	chr16:31367214-31367599	NONHSAT141895
2	lnc-ITGAX-2	chr16:31367214-31367319	NONHSAT141896

Variant related genes	Relation type
ENSG00000140678	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62054768	0.83[AFR][1000 genomes]
rs62054769	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31361200-31368000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr16:31363800-31368200	Weak transcription	Fetal Muscle Leg	muscle
4	chr16:31364200-31367400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr16:31364400-31370200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr16:31365600-31368000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr16:31365600-31368600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr16:31365600-31369200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:31365600-31369800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr16:31365800-31367800	Enhancers	Spleen	Spleen
11	chr16:31366000-31368800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr16:31366400-31367400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:31366400-31368200	Active TSS	Adipose Nuclei	Adipose
14	chr16:31366400-31369200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:31366600-31367400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr16:31366600-31367400	Active TSS	Brain Hippocampus Middle	brain
17	chr16:31366600-31368200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr16:31366600-31369800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr16:31366600-31369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:31366800-31367800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:31366800-31368000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr16:31366800-31368000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr16:31366800-31368000	Weak transcription	A549	lung
24	chr16:31366800-31368200	Weak transcription	Colonic Mucosa	Colon
25	chr16:31366800-31368400	Weak transcription	Fetal Thymus	thymus
26	chr16:31366800-31368800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:31366800-31368800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:31366800-31369000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr16:31366800-31369200	Weak transcription	Lung	lung
30	chr16:31367000-31367400	Enhancers	GM12878-XiMat	blood
31	chr16:31367000-31368000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:31367000-31368200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:31367000-31368800	Enhancers	Primary hematopoietic stem cells	blood
34	chr16:31367000-31370000	Enhancers	Primary B cells from peripheral blood	blood
35	chr16:31367200-31367400	Active TSS	Primary B cells from cord blood	blood
36	chr16:31367200-31368000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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