Variant report

Variant	rs2269893
Chromosome Location	chr7:26226428-26226429
allele	A/C/G/T
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:26152221..26157308-chr7:26225005..26229751,7	K562	blood:
2	chr7:25931003..25932570-chr7:26225678..26227497,2	MCF-7	breast:
3	chr6:26157751..26159704-chr7:26225924..26228352,2	K562	blood:
4	chr7:26014155..26016824-chr7:26226230..26228691,2	K562	blood:
5	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
6	chr7:26224474..26226618-chr7:26279282..26281350,3	MCF-7	breast:
7	chr7:26224902..26232884-chr7:26322008..26332976,29	K562	blood:
8	chr7:26183554..26185786-chr7:26224820..26226672,2	K562	blood:
9	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:
10	chr5:172887206..172889991-chr7:26225791..26227518,2	K562	blood:
11	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
12	chr7:26226202..26228605-chr7:26311727..26314300,2	K562	blood:
13	chr7:26226324..26228907-chr7:26403420..26405277,2	K562	blood:
14	chr7:26145169..26147608-chr7:26224836..26227830,4	K562	blood:
15	chr11:65656679..65658694-chr7:26225133..26227712,2	K562	blood:
16	chr7:26224941..26227535-chr7:26333597..26335223,2	K562	blood:
17	chr7:25930064..25934864-chr7:26225414..26230890,12	K562	blood:
18	chr7:26110644..26115952-chr7:26225900..26230055,7	K562	blood:
19	chr5:137803047..137805590-chr7:26225142..26227880,2	K562	blood:
20	chr7:26225967..26229689-chr7:26296962..26299546,3	K562	blood:
21	chr7:26093464..26095409-chr7:26225078..26227432,2	K562	blood:
22	chr7:26225325..26227141-chr7:26354018..26356821,2	K562	blood:
23	chr7:26171147..26177551-chr7:26225022..26228862,6	K562	blood:
24	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
25	chr7:26225358..26228940-chr7:26318718..26321554,4	K562	blood:
26	chr7:26111985..26114950-chr7:26225900..26229450,4	K562	blood:
27	chr7:26174186..26178287-chr7:26225672..26229068,5	K562	blood:
28	chr7:26204327..26208311-chr7:26225894..26230203,6	K562	blood:
29	chr7:26224549..26228496-chr7:26395464..26399879,4	K562	blood:
30	chr7:26076616..26078985-chr7:26226158..26229090,2	K562	blood:
31	chr7:26225358..26228144-chr7:26318718..26321292,4	K562	blood:
32	chr7:26224710..26231544-chr7:26402048..26407320,8	K562	blood:
33	chr7:26146073..26148941-chr7:26224609..26227830,4	K562	blood:
34	chr7:26212218..26214993-chr7:26226282..26231933,7	K562	blood:
35	chr7:26130771..26133250-chr7:26224106..26227853,3	MCF-7	breast:
36	chr7:26224902..26232884-chr7:26322942..26334107,28	K562	blood:

No data

Variant related genes	Relation type
ENSG00000086300	Chromatin interaction
ENSG00000273237	Chromatin interaction
ENSG00000050344	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10225431	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10236009	1.00[ASN][1000 genomes]
rs10238831	0.88[ASN][1000 genomes]
rs1025331	0.91[ASN][1000 genomes]
rs10255851	0.87[ASN][1000 genomes]
rs10261965	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11486821	0.86[ASN][1000 genomes]
rs11971002	1.00[ASN][1000 genomes]
rs11974650	1.00[ASN][1000 genomes]
rs11983671	0.87[ASN][1000 genomes]
rs12700716	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28520327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34876113	0.91[ASN][1000 genomes]
rs6974645	0.91[ASN][1000 genomes]
rs71521751	0.93[ASN][1000 genomes]
rs7803845	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26199400-26230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:26200000-26227200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:26206600-26227600	Weak transcription	Esophagus	oesophagus
4	chr7:26207000-26226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:26207000-26227400	Weak transcription	Gastric	stomach
6	chr7:26207000-26227600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:26207000-26228000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:26207200-26227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:26207200-26228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:26207400-26227800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:26207600-26227000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:26207600-26227400	Weak transcription	Primary T cells from cord blood	blood
13	chr7:26208000-26227400	Weak transcription	Brain Substantia Nigra	brain
14	chr7:26208800-26227600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:26210200-26227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:26210200-26227000	Weak transcription	Small Intestine	intestine
17	chr7:26212200-26227400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:26213800-26228400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:26214400-26228200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:26215600-26228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:26217200-26228000	Weak transcription	Fetal Brain Male	brain
22	chr7:26217400-26234800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:26218200-26236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:26218400-26227000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:26218600-26227000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:26218600-26228600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:26218800-26231800	Weak transcription	Fetal Intestine Small	intestine
28	chr7:26219000-26233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:26219600-26228200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:26219600-26228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:26219800-26227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:26220000-26228000	Weak transcription	Fetal Kidney	kidney
33	chr7:26220600-26234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:26221400-26227200	Weak transcription	Brain Angular Gyrus	brain
35	chr7:26221400-26228000	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:26221600-26226800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:26221800-26228000	Weak transcription	Fetal Lung	lung
38	chr7:26222200-26233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:26222600-26227000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr7:26222600-26227400	Weak transcription	Spleen	Spleen
41	chr7:26222600-26228200	Weak transcription	Ovary	ovary
42	chr7:26222600-26232000	Weak transcription	Right Atrium	heart
43	chr7:26222800-26227000	Weak transcription	Lung	lung
44	chr7:26222800-26227200	Weak transcription	Fetal Intestine Large	intestine
45	chr7:26222800-26227800	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:26223000-26227000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:26223000-26227000	Weak transcription	NHLF	lung
48	chr7:26223000-26227800	Weak transcription	NHDF-Ad	bronchial
49	chr7:26223200-26227600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:26223200-26233200	Strong transcription	Fetal Thymus	thymus

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