Variant report

Variant	rs28395876
Chromosome Location	chr11:64026845-64026846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2C2	chr11:64026822-64027486	GM12878	blood:	n/a	chr11:64027099-64027108 chr11:64027299-64027312 chr11:64027097-64027110 chr11:64027294-64027303 chr11:64027106-64027115 chr11:64027104-64027117 chr11:64027170-64027183 chr11:64027292-64027305 chr11:64026999-64027012 chr11:64026881-64026890 chr11:64027001-64027010 chr11:64026886-64026899 chr11:64026888-64026897 chr11:64027468-64027481 chr11:64027165-64027174
2	POLR2A	chr11:64026748-64027481	K562	blood:	n/a	n/a
3	NR2F2	chr11:64026752-64027623	K562	blood:	n/a	n/a
4	NR2F2	chr11:64026663-64027591	MCF-7	breast:	n/a	n/a
5	HDAC2	chr11:64026821-64027390	K562	blood:	n/a	n/a
6	POLR2A	chr11:64026824-64027325	K562	blood:	n/a	n/a
7	POLR2A	chr11:64026785-64027329	K562	blood:	n/a	n/a
8	NR2F2	chr11:64026725-64027549	K562	blood:	n/a	n/a
9	POLR2A	chr11:64026774-64027224	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64026538..64028720-chr11:64051323..64054136,3	MCF-7	breast:

Variant related genes	Relation type
PLCB3	TF binding region
ENSG00000002330	Chromatin interaction
ENSG00000173264	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1047206	0.86[ASN][1000 genomes]
rs11600990	0.86[ASN][1000 genomes]
rs11606014	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12785488	0.84[ASN][1000 genomes]
rs12788266	0.86[ASN][1000 genomes]
rs12808002	0.83[ASN][1000 genomes]
rs2276014	0.86[ASN][1000 genomes]
rs2286614	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs28395875	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34292685	0.84[AFR][1000 genomes]
rs34358026	0.85[AFR][1000 genomes]
rs35692796	0.83[ASN][1000 genomes]
rs41294396	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs66968227	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs71456304	0.86[ASN][1000 genomes]
rs71456309	0.83[ASN][1000 genomes]
rs7938380	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7939107	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7947143	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
11	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
12	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
13	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
14	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
15	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
16	nsv468595	chr11:63953121-64027888	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
17	nsv555187	chr11:63953121-64027888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
18	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
19	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
20	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
21	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
22	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
23	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
24	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
25	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
26	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	169 gene(s)	inside rSNPs	diseases
27	nsv541064	chr11:63998625-64036450	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
28	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
29	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28395876	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64020000-64027000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64020000-64036400	Weak transcription	Fetal Kidney	kidney
3	chr11:64020200-64030200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:64020200-64034800	Weak transcription	Right Atrium	heart
5	chr11:64020200-64035400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:64020400-64027000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:64020400-64035200	Weak transcription	Primary B cells from cord blood	blood
8	chr11:64020400-64036000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:64020600-64027200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:64020600-64035000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:64020600-64035600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:64020800-64029800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:64021000-64035600	Weak transcription	Brain Angular Gyrus	brain
14	chr11:64021000-64035600	Weak transcription	Fetal Heart	heart
15	chr11:64021200-64034800	Strong transcription	Fetal Intestine Small	intestine
16	chr11:64021200-64034800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:64021200-64035600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:64021400-64030400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:64021400-64035800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:64021600-64029200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:64021600-64030000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:64021600-64030600	Weak transcription	Stomach Mucosa	stomach
23	chr11:64021600-64030800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr11:64021600-64033800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:64021600-64034000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:64021600-64034200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:64021800-64028000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:64021800-64030200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr11:64021800-64030400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:64021800-64031000	Strong transcription	Placenta	Placenta
31	chr11:64021800-64031400	Strong transcription	Pancreas	Pancrea
32	chr11:64021800-64034000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:64021800-64034400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr11:64021800-64034400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr11:64021800-64034800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:64021800-64034800	Strong transcription	Colonic Mucosa	Colon
37	chr11:64021800-64034800	Strong transcription	Fetal Intestine Large	intestine
38	chr11:64022000-64028000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:64022000-64029800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:64022000-64030200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:64022000-64031800	Strong transcription	Thymus	Thymus
42	chr11:64022000-64034200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:64022000-64034600	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:64022000-64034800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:64022000-64034800	Strong transcription	Lung	lung
46	chr11:64022000-64035400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:64022200-64028000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:64022200-64028200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr11:64022200-64030400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:64022200-64030400	Strong transcription	Osteobl	bone

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