Variant report

Variant	rs12099354
Chromosome Location	chr11:9879379-9879380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9878394..9880153-chr11:10314990..10317190,2	K562	blood:
2	chr11:9868824..9871415-chr11:9878281..9879857,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133812	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12360818	0.87[EUR][1000 genomes]
rs12365540	0.87[EUR][1000 genomes]
rs12365901	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12796169	0.85[EUR][1000 genomes]
rs1546541	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1546542	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2017503	0.85[AFR][1000 genomes]
rs35396321	0.86[EUR][1000 genomes]
rs35749184	0.87[AFR][1000 genomes]
rs4334006	0.87[EUR][1000 genomes]
rs4445629	0.81[EUR][1000 genomes]
rs4498988	0.87[EUR][1000 genomes]
rs4910069	0.97[ASN][1000 genomes]
rs4910076	0.87[EUR][1000 genomes]
rs6483811	0.81[EUR][1000 genomes]
rs67701335	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7107328	0.90[EUR][1000 genomes]
rs7122293	0.81[AFR][1000 genomes]
rs7126063	0.86[EUR][1000 genomes]
rs7131516	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7350496	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7929338	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7930281	0.85[EUR][1000 genomes]
rs7948688	0.85[EUR][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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
2	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
3	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9818600-9881400	Weak transcription	Spleen	Spleen
2	chr11:9830400-9880400	Weak transcription	Thymus	Thymus
3	chr11:9830800-9880600	Weak transcription	Fetal Brain Male	brain
4	chr11:9837600-9885800	Weak transcription	Hela-S3	cervix
5	chr11:9838600-9879800	Weak transcription	Fetal Thymus	thymus
6	chr11:9851200-9880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:9851600-9880400	Weak transcription	Small Intestine	intestine
8	chr11:9854000-9880600	Weak transcription	Colonic Mucosa	Colon
9	chr11:9856600-9880000	Weak transcription	Fetal Heart	heart
10	chr11:9859800-9880200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:9861400-9879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:9861400-9879800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:9861400-9879800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:9861400-9880800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:9863000-9879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:9863400-9880000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:9863600-9879800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:9863800-9883800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:9865000-9879800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:9866000-9880400	Weak transcription	Esophagus	oesophagus
21	chr11:9866000-9880400	Weak transcription	Pancreas	Pancrea
22	chr11:9868600-9883400	Weak transcription	HSMMtube	muscle
23	chr11:9868800-9879800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:9872200-9879600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:9873600-9880000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:9875200-9880800	Enhancers	Primary B cells from cord blood	blood
27	chr11:9875400-9881400	Enhancers	Primary B cells from peripheral blood	blood
28	chr11:9876000-9879800	Weak transcription	Stomach Mucosa	stomach
29	chr11:9876200-9879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:9876600-9882800	Enhancers	Osteobl	bone
31	chr11:9877000-9881000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr11:9877600-9879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:9877600-9879800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:9877600-9890200	Weak transcription	Brain Anterior Caudate	brain
35	chr11:9877800-9879600	Weak transcription	Fetal Brain Female	brain
36	chr11:9877800-9897000	Weak transcription	Psoas Muscle	Psoas
37	chr11:9878000-9879600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:9878000-9879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:9878000-9879800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:9878000-9880400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:9878200-9879400	Weak transcription	Primary T cells from cord blood	blood
42	chr11:9878200-9879400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:9878200-9879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:9878200-9879600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:9878200-9879600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:9878200-9879600	Weak transcription	Dnd41	blood
47	chr11:9878200-9879800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:9878200-9879800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:9878200-9879800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:9878200-9879800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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