Variant report

Variant	rs6736152
Chromosome Location	chr2:99123296-99123297
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99121252..99123677-chr2:99147089..99148766,2	K562	blood:
2	chr2:99104757..99106560-chr2:99122762..99124646,2	K562	blood:
3	chr2:99114971..99120077-chr2:99122258..99125912,6	K562	blood:
4	chr2:99121740..99124378-chr2:99222432..99225473,3	K562	blood:

Variant related genes	Relation type
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11884501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6542818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6705214	1.00[AMR][1000 genomes]
rs7599653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7603808	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv2840	chr2:99116934-99162190	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 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	chr2:99101600-99131400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:99112200-99130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:99113600-99123600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:99114000-99124200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:99114000-99137600	Weak transcription	Fetal Intestine Large	intestine
6	chr2:99114400-99123400	Weak transcription	Brain Germinal Matrix	brain
7	chr2:99114400-99131200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:99114400-99154000	Weak transcription	HepG2	liver
9	chr2:99115000-99135000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:99116600-99137800	Weak transcription	Fetal Brain Female	brain
11	chr2:99116800-99123400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:99116800-99135600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:99117200-99131200	Weak transcription	Fetal Kidney	kidney
14	chr2:99117800-99123400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:99118000-99124800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:99118000-99126000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:99118000-99129400	Genic enhancers	Primary T cells from cord blood	blood
18	chr2:99118200-99125000	Enhancers	Spleen	Spleen
19	chr2:99118200-99126000	Enhancers	Brain Anterior Caudate	brain
20	chr2:99118200-99126200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:99118400-99123400	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:99118600-99123600	Enhancers	Brain Hippocampus Middle	brain
23	chr2:99118600-99124600	Weak transcription	Stomach Mucosa	stomach
24	chr2:99118600-99125200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:99118600-99125800	Enhancers	Colon Smooth Muscle	Colon
26	chr2:99119000-99126000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:99119200-99124200	Weak transcription	Fetal Brain Male	brain
28	chr2:99119200-99124400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:99119200-99126400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:99119200-99137400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:99119400-99130600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:99119400-99131400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:99119600-99124400	Weak transcription	NH-A	brain
34	chr2:99119600-99124800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:99119600-99131400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:99119800-99124200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:99119800-99124200	Weak transcription	HSMM	muscle
38	chr2:99120200-99126800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:99120600-99131200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:99120600-99131400	Weak transcription	Dnd41	blood
41	chr2:99120800-99123600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr2:99120800-99124600	Enhancers	Primary B cells from cord blood	blood
43	chr2:99121000-99124800	Enhancers	Duodenum Mucosa	Duodenum
44	chr2:99121400-99131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:99121400-99135800	Weak transcription	Aorta	Aorta
46	chr2:99121600-99124800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:99121600-99125400	Enhancers	Fetal Muscle Trunk	muscle
48	chr2:99121600-99155400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:99121800-99123400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:99121800-99124000	Weak transcription	Brain Inferior Temporal Lobe	brain

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