Variant report

Variant	rs494244
Chromosome Location	chr1:91968382-91968383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:91869685..91873685-chr1:91965673..91969192,5	K562	blood:
2	chr1:91966732..91969554-chr1:91971493..91974418,3	MCF-7	breast:
3	chr1:91879633..91881170-chr1:91966893..91969122,2	K562	blood:

Variant related genes	Relation type
ENSG00000162669	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11164872	1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164900	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4658100	0.92[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs565451	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7536200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91965800-91968400	Active TSS	Fetal Brain Female	brain
2	chr1:91966000-91968400	Active TSS	Brain Anterior Caudate	brain
3	chr1:91966200-91968400	Active TSS	GM12878-XiMat	blood
4	chr1:91966200-91968600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:91966800-91968400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:91967000-91968400	Flanking Active TSS	NHEK	skin
7	chr1:91967000-91968600	Flanking Active TSS	HUVEC	blood vessel
8	chr1:91967200-91972000	Weak transcription	Spleen	Spleen
9	chr1:91967200-91980800	Weak transcription	Gastric	stomach
10	chr1:91967200-91989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:91967400-91968600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:91967400-91968600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:91967400-91968600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:91967400-91968600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:91967400-91968600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:91967400-91969000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:91967400-91970600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:91967400-91977600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:91967400-91978200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:91967400-91984800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:91967400-91989000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:91967600-91968400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr1:91967600-91968600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr1:91967600-91968600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:91967600-91968600	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:91967600-91968600	Flanking Active TSS	Fetal Heart	heart
27	chr1:91967600-91968600	Flanking Active TSS	Hela-S3	cervix
28	chr1:91967600-91968600	Flanking Active TSS	NHLF	lung
29	chr1:91967600-91968800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:91967600-91968800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:91967600-91968800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:91967600-91968800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr1:91967600-91968800	Flanking Active TSS	NHDF-Ad	bronchial
34	chr1:91967600-91969000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:91967600-91969200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:91967600-91969200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:91967600-91970400	Weak transcription	Brain Substantia Nigra	brain
38	chr1:91967600-91971400	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr1:91967600-91971800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:91967600-91980400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:91967600-91990600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:91967800-91968400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:91967800-91968400	Enhancers	Primary T cells from cord blood	blood
44	chr1:91967800-91968600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:91967800-91968600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:91967800-91968600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:91967800-91968600	Enhancers	HepG2	liver
48	chr1:91967800-91968600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:91967800-91968800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:91967800-91976000	Weak transcription	Brain Hippocampus Middle	brain

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