Variant report

Variant	rs61915872
Chromosome Location	chr11:48106048-48106049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48105031..48106761-chr11:48108023..48109885,2	MCF-7	breast:
2	chr11:48001457..48003735-chr11:48105234..48107341,2	K562	blood:
3	chr11:48098800..48100999-chr11:48104120..48106582,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149177	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10501322	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10838796	0.90[EUR][1000 genomes]
rs11039509	0.90[EUR][1000 genomes]
rs11819788	0.93[EUR][1000 genomes]
rs12289488	0.90[EUR][1000 genomes]
rs12289583	0.90[EUR][1000 genomes]
rs1566735	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1569171	0.90[EUR][1000 genomes]
rs17727563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17727629	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17727725	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17789481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17789547	1.00[EUR][1000 genomes]
rs17789571	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17789583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55670897	0.90[EUR][1000 genomes]
rs55708971	1.00[AFR][1000 genomes]
rs55709369	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56143324	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56817081	0.90[EUR][1000 genomes]
rs57066976	0.90[EUR][1000 genomes]
rs61914720	0.90[EUR][1000 genomes]
rs61914721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61914722	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61914723	0.90[EUR][1000 genomes]
rs61914725	0.90[EUR][1000 genomes]
rs61914726	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61914727	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61914729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61914730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61914731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61914732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61914733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61914736	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61914738	0.82[EUR][1000 genomes]
rs61914739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914740	1.00[EUR][1000 genomes]
rs61915869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61915875	1.00[EUR][1000 genomes]
rs61915876	1.00[EUR][1000 genomes]
rs61915877	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915878	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915879	1.00[EUR][1000 genomes]
rs61915880	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915881	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915882	1.00[EUR][1000 genomes]
rs61915883	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915913	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915914	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915915	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61915918	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7106202	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7111553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73464876	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv869124	chr11:48014539-48783113	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv1051805	chr11:48016488-48378048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv428573	chr11:48032457-48152344	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
15	nsv897328	chr11:48043053-48901553	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv897329	chr11:48052676-48319974	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1048554	chr11:48062861-48388686	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
18	nsv1038210	chr11:48068862-48388686	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
19	nsv1052076	chr11:48077864-48702549	ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
20	nsv1053528	chr11:48086151-48125731	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
21	nsv869354	chr11:48088580-48783113	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
22	nsv1045734	chr11:48089315-48893207	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
23	nsv1036541	chr11:48091589-48116032	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48086000-48109200	Weak transcription	Fetal Intestine Large	intestine
2	chr11:48086200-48114400	Weak transcription	Hela-S3	cervix
3	chr11:48089200-48108000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:48092400-48109400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:48095200-48114200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:48096400-48111200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:48097200-48109800	Weak transcription	Colonic Mucosa	Colon
8	chr11:48097600-48109600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:48097600-48110000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:48100000-48106200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:48101200-48108000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:48102400-48110000	Weak transcription	Aorta	Aorta
13	chr11:48102600-48109600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:48102800-48109600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:48103000-48110000	Weak transcription	Fetal Brain Male	brain
16	chr11:48103200-48114200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:48103400-48109000	Weak transcription	Pancreas	Pancrea
18	chr11:48103400-48109200	Weak transcription	HepG2	liver
19	chr11:48103400-48110200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:48103400-48111600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:48103400-48114000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:48103600-48109200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:48103600-48109400	Weak transcription	Brain Substantia Nigra	brain
24	chr11:48103600-48109600	Weak transcription	Left Ventricle	heart
25	chr11:48103600-48109800	Weak transcription	Gastric	stomach
26	chr11:48103600-48112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:48103600-48115400	Weak transcription	HSMMtube	muscle
28	chr11:48103600-48122800	Weak transcription	Right Ventricle	heart
29	chr11:48103800-48109200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:48103800-48109200	Weak transcription	Small Intestine	intestine
31	chr11:48103800-48109600	Weak transcription	Primary T cells from cord blood	blood
32	chr11:48103800-48109800	Weak transcription	Osteobl	bone
33	chr11:48103800-48115400	Weak transcription	HSMM	muscle
34	chr11:48104000-48108600	Weak transcription	Brain Angular Gyrus	brain
35	chr11:48104000-48109600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:48104400-48110000	Weak transcription	Lung	lung
37	chr11:48104600-48107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:48104600-48107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:48104600-48108000	Weak transcription	Brain Anterior Caudate	brain
40	chr11:48104600-48108000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:48104600-48109200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:48104600-48109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:48104600-48109800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:48104600-48110000	Weak transcription	Right Atrium	heart
45	chr11:48104800-48106200	Strong transcription	Primary B cells from cord blood	blood
46	chr11:48104800-48109600	Weak transcription	Stomach Mucosa	stomach
47	chr11:48104800-48109600	Weak transcription	Spleen	Spleen
48	chr11:48104800-48109800	Weak transcription	Adipose Nuclei	Adipose
49	chr11:48104800-48110000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:48105000-48110200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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