Variant report

Variant	rs72650671
Chromosome Location	chr1:114380914-114380915
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114378611..114381434-chr1:114441911..114444324,2	MCF-7	breast:
2	chr1:114352576..114359844-chr1:114370702..114381098,32	MCF-7	breast:
3	chr1:114379854..114382031-chr1:114520670..114522265,2	K562	blood:
4	chr1:114377680..114381184-chr1:114408500..114412874,4	MCF-7	breast:
5	chr1:114378744..114382366-chr1:114412753..114415533,4	MCF-7	breast:
6	chr1:114378951..114381857-chr1:114464169..114466272,2	MCF-7	breast:
7	chr1:114377082..114381758-chr1:114445444..114449368,6	MCF-7	breast:
8	chr1:114366150..114373270-chr1:114373613..114381825,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231128	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000134242	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000116774	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11102660	1.00[ASN][1000 genomes]
rs12117799	1.00[ASN][1000 genomes]
rs61819425	1.00[ASN][1000 genomes]
rs7515189	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers 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	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114355000-114401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:114355000-114401000	Weak transcription	Spleen	Spleen
3	chr1:114355800-114397400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:114355800-114413000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:114357000-114392200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:114361800-114390400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:114377600-114388400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:114377600-114388800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:114377600-114389200	Weak transcription	Dnd41	blood
10	chr1:114377600-114392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:114377600-114392800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:114378000-114402600	Weak transcription	Colonic Mucosa	Colon
13	chr1:114378800-114385800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:114379000-114381200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:114379000-114386400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:114379000-114393000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:114379200-114381400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:114379200-114390400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:114379200-114391600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:114379400-114381000	Strong transcription	Primary B cells from cord blood	blood
21	chr1:114379400-114381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:114379400-114381200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:114379600-114381000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:114379600-114381200	Strong transcription	Primary T cells from cord blood	blood
25	chr1:114379800-114391400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:114380000-114381000	Strong transcription	Thymus	Thymus
27	chr1:114380200-114381000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr1:114380200-114381200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:114380200-114381200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:114380200-114381200	Strong transcription	Fetal Thymus	thymus
31	chr1:114380200-114382800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:114380400-114381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:114380400-114381200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:114380400-114384600	Weak transcription	GM12878-XiMat	blood

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