Variant report

Variant	rs12419001
Chromosome Location	chr11:34270899-34270900
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34270206..34274230-chr11:34378598..34380931,3	MCF-7	breast:
2	chr11:34269717..34273624-chr11:34376687..34380089,5	MCF-7	breast:
3	chr11:34268801..34271707-chr11:34290725..34293055,2	K562	blood:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11032580	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11032581	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11032583	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12418981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925360	0.82[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57240681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61435083	0.84[EUR][1000 genomes]
rs7122866	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7941113	0.85[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897204	chr11:34248229-34271712	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34261600-34272600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:34264200-34272600	Weak transcription	Lung	lung
3	chr11:34265600-34272400	Weak transcription	Aorta	Aorta
4	chr11:34265800-34272400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:34266000-34272400	Weak transcription	Osteobl	bone
6	chr11:34266000-34272600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:34266200-34271400	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:34266200-34272200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:34266200-34272600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:34266200-34272600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:34266400-34272200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:34266400-34272600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:34266400-34272600	Weak transcription	Placenta	Placenta
14	chr11:34266400-34272800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:34266600-34272400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:34266800-34272400	Weak transcription	NH-A	brain
17	chr11:34267000-34271000	Enhancers	GM12878-XiMat	blood
18	chr11:34267000-34272800	Weak transcription	Spleen	Spleen
19	chr11:34267000-34273000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:34267200-34272400	Weak transcription	Stomach Mucosa	stomach
21	chr11:34267200-34272600	Weak transcription	Colonic Mucosa	Colon
22	chr11:34267200-34272800	Weak transcription	Gastric	stomach
23	chr11:34267400-34271000	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:34267400-34272800	Weak transcription	Pancreas	Pancrea
25	chr11:34267400-34273600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:34267600-34271200	Weak transcription	Left Ventricle	heart
27	chr11:34267600-34271200	Weak transcription	Psoas Muscle	Psoas
28	chr11:34267600-34271400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:34267600-34271600	Weak transcription	Right Atrium	heart
30	chr11:34267600-34272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:34267600-34272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:34267600-34272800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:34267800-34272400	Weak transcription	Fetal Heart	heart
34	chr11:34267800-34272800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:34267800-34272800	Weak transcription	Right Ventricle	heart
36	chr11:34268200-34273000	Enhancers	Thymus	Thymus
37	chr11:34268200-34274800	Enhancers	Fetal Thymus	thymus
38	chr11:34268600-34271400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr11:34268600-34272600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:34268600-34272800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:34268800-34272400	Enhancers	A549	lung
42	chr11:34268800-34272600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:34268800-34272800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr11:34268800-34274000	Enhancers	HepG2	liver
45	chr11:34268800-34274200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:34269000-34272800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr11:34269200-34272200	Weak transcription	HSMM	muscle
48	chr11:34269400-34272200	Weak transcription	HSMMtube	muscle
49	chr11:34269600-34271400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:34269600-34272400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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