Variant report

Variant	rs9591278
Chromosome Location	chr13:50139934-50139935
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	chr13:50017307..50019773-chr13:50138937..50140601,2	MCF-7	breast:
2	chr13:50134458..50136628-chr13:50139261..50141252,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102547	Chromatin interaction
ENSG00000136169	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11616920	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12017701	0.91[EUR][1000 genomes]
rs12428474	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12583946	0.91[EUR][1000 genomes]
rs12585072	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12585079	0.88[EUR][1000 genomes]
rs17069328	0.90[EUR][1000 genomes]
rs17073145	0.91[EUR][1000 genomes]
rs17073150	0.91[EUR][1000 genomes]
rs2002407	0.88[EUR][1000 genomes]
rs2274279	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2274280	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2274281	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2274283	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3751381	0.90[EUR][1000 genomes]
rs3751382	0.89[EUR][1000 genomes]
rs3751383	0.90[EUR][1000 genomes]
rs3764082	0.91[EUR][1000 genomes]
rs56250426	0.91[EUR][1000 genomes]
rs59416746	0.91[EUR][1000 genomes]
rs61961364	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67275254	0.91[EUR][1000 genomes]
rs7140107	0.89[EUR][1000 genomes]
rs7320475	0.91[EUR][1000 genomes]
rs7325667	0.91[EUR][1000 genomes]
rs7328126	0.91[EUR][1000 genomes]
rs7328536	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7328860	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7332926	0.83[EUR][1000 genomes]
rs7336758	0.91[EUR][1000 genomes]
rs7337705	0.90[EUR][1000 genomes]
rs7338090	0.91[EUR][1000 genomes]
rs7339079	0.86[EUR][1000 genomes]
rs7981952	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7983030	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7983672	0.86[EUR][1000 genomes]
rs7986417	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7987338	0.91[EUR][1000 genomes]
rs7987806	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7987956	0.91[EUR][1000 genomes]
rs7988350	0.91[EUR][1000 genomes]
rs7988844	0.91[EUR][1000 genomes]
rs7989915	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7990896	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8001878	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9562893	0.86[EUR][1000 genomes]
rs9562894	0.88[EUR][1000 genomes]
rs9562897	0.91[EUR][1000 genomes]
rs9562898	0.91[EUR][1000 genomes]
rs9562899	0.91[EUR][1000 genomes]
rs9562900	0.91[EUR][1000 genomes]
rs9568243	0.91[EUR][1000 genomes]
rs9568246	0.90[EUR][1000 genomes]
rs9568247	0.91[EUR][1000 genomes]
rs9568248	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9568249	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568250	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568251	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568252	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568253	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568254	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568255	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568256	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568257	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568258	0.91[EUR][1000 genomes]
rs9568259	0.91[EUR][1000 genomes]
rs9568260	0.91[EUR][1000 genomes]
rs9568265	0.91[EUR][1000 genomes]
rs9568266	0.88[EUR][1000 genomes]
rs9596139	0.91[EUR][1000 genomes]
rs9596140	0.91[EUR][1000 genomes]
rs9596141	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9596142	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9596143	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9596144	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9596145	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9596148	0.91[EUR][1000 genomes]
rs9596150	0.91[EUR][1000 genomes]
rs9596151	0.91[EUR][1000 genomes]
rs9596152	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
4	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
6	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv2763020	chr13:50105055-50192259	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1052801	chr13:50116407-50144995	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv561616	chr13:50120435-50190246	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv949162	chr13:50120985-50195882	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1046912	chr13:50122840-50189313	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1043902	chr13:50122840-50189999	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	esv2761789	chr13:50122852-50185910	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv455883	chr13:50124621-50185204	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv561617	chr13:50124621-50185204	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
17	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9591278	RCBTB1	cis	Whole Blood	GTEx
rs9591278	KPNA3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
2	chr13:50088400-50151000	Weak transcription	Psoas Muscle	Psoas
3	chr13:50094600-50141600	Weak transcription	Right Ventricle	heart
4	chr13:50101600-50142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:50104600-50143800	Weak transcription	Hela-S3	cervix
6	chr13:50108600-50158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:50115000-50140400	Weak transcription	Fetal Brain Male	brain
8	chr13:50115200-50140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:50115400-50141200	Weak transcription	K562	blood
10	chr13:50115400-50143200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:50122000-50158000	Weak transcription	Brain Germinal Matrix	brain
12	chr13:50124000-50158800	Weak transcription	Esophagus	oesophagus
13	chr13:50125600-50140600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr13:50126400-50140600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr13:50126400-50152400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr13:50128200-50142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr13:50129000-50158800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:50129800-50155200	Weak transcription	Spleen	Spleen
19	chr13:50130000-50144200	Weak transcription	GM12878-XiMat	blood
20	chr13:50130200-50143800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr13:50130400-50158800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr13:50132400-50153600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr13:50132400-50153800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr13:50132400-50153800	Weak transcription	NH-A	brain
25	chr13:50132600-50140600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr13:50133400-50154000	Weak transcription	Colon Smooth Muscle	Colon
27	chr13:50133600-50140400	Weak transcription	Fetal Kidney	kidney
28	chr13:50133600-50140600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:50133800-50143800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr13:50134000-50143800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr13:50134200-50140400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr13:50134200-50140400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr13:50134200-50140400	Weak transcription	NHLF	lung
34	chr13:50134200-50140600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr13:50134200-50140600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr13:50134200-50140600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr13:50134200-50140600	Weak transcription	HSMM	muscle
38	chr13:50134200-50151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:50134200-50158400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr13:50134200-50158400	Weak transcription	Fetal Brain Female	brain
41	chr13:50134400-50140600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:50134400-50151000	Weak transcription	HSMMtube	muscle
43	chr13:50135000-50158600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr13:50135200-50144200	Weak transcription	A549	lung
45	chr13:50135200-50144400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:50135200-50153400	Weak transcription	Gastric	stomach
47	chr13:50135200-50154000	Weak transcription	Placenta	Placenta
48	chr13:50135400-50140400	Weak transcription	Adipose Nuclei	Adipose
49	chr13:50135400-50140600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:50135400-50141200	Weak transcription	Ovary	ovary

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