Variant report

Variant	rs7121639
Chromosome Location	chr11:75557383-75557384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75523255..75528239-chr11:75549898..75558151,19	MCF-7	breast:
2	chr11:75551626..75554500-chr11:75554574..75557568,3	MCF-7	breast:
3	chr11:75528469..75531370-chr11:75554920..75558717,3	MCF-7	breast:
4	chr11:75549918..75552133-chr11:75553631..75557803,4	K562	blood:

Variant related genes	Relation type
ENSG00000198382	Chromatin interaction
ENSG00000255507	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11236561	1.00[ASW][hapmap];0.97[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs12279237	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs12279369	1.00[CEU][hapmap]
rs12283986	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs12284314	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1458834	1.00[CEU][hapmap]
rs17134361	1.00[CEU][hapmap]
rs2371373	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35085051	1.00[MEX][hapmap]
rs55740367	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56216135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56230849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56280826	0.91[AMR][1000 genomes]
rs57081953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58509556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102544	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7105260	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7118055	1.00[CEU][hapmap]
rs7122125	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7122276	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7122386	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7122695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125495	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs73491729	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491733	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73491734	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73491737	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491741	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7933028	1.00[CEU][hapmap]
rs7934683	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934862	1.00[CEU][hapmap]
rs7934895	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7937098	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7939174	1.00[CEU][hapmap]
rs7948380	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948526	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949863	1.00[CEU][hapmap]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription 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 target site	25 gene(s)	inside rSNPs	diseases
4	esv15047	chr11:75557315-75558660	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75528400-75561600	Weak transcription	HSMM	muscle
2	chr11:75528400-75561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:75528600-75561400	Weak transcription	Fetal Brain Female	brain
4	chr11:75528600-75561400	Weak transcription	Thymus	Thymus
5	chr11:75528600-75563600	Weak transcription	Dnd41	blood
6	chr11:75535400-75560800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:75535400-75579000	Weak transcription	Fetal Intestine Large	intestine
8	chr11:75535800-75573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:75538000-75563000	Weak transcription	HepG2	liver
10	chr11:75538600-75567600	Weak transcription	Placenta	Placenta
11	chr11:75538800-75591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:75540200-75561000	Weak transcription	Lung	lung
13	chr11:75542800-75561800	Weak transcription	Fetal Thymus	thymus
14	chr11:75543800-75561200	Weak transcription	Spleen	Spleen
15	chr11:75543800-75561400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:75544000-75584000	Weak transcription	Small Intestine	intestine
17	chr11:75547400-75566400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:75547600-75600000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:75547800-75561000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:75547800-75561000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:75547800-75563400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:75548000-75562600	Weak transcription	Primary T cells from cord blood	blood
23	chr11:75548200-75561000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:75549800-75561800	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:75549800-75602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:75550000-75561200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:75550000-75561200	Weak transcription	K562	blood
28	chr11:75550200-75560800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:75550200-75564000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:75550200-75564000	Weak transcription	Fetal Intestine Small	intestine
31	chr11:75550200-75564000	Weak transcription	Fetal Stomach	stomach
32	chr11:75551000-75562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:75551600-75560600	Weak transcription	Primary B cells from cord blood	blood
34	chr11:75551600-75563400	Weak transcription	NHEK	skin
35	chr11:75551800-75557400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:75551800-75561000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:75551800-75564600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:75551800-75569000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:75552000-75559600	Weak transcription	Hela-S3	cervix
40	chr11:75552000-75561800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:75552000-75580000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:75552200-75561200	Weak transcription	HUVEC	blood vessel
43	chr11:75552400-75561400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:75553000-75561200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:75553200-75560000	Weak transcription	Pancreas	Pancrea
46	chr11:75553200-75561800	Weak transcription	Fetal Lung	lung
47	chr11:75553200-75561800	Weak transcription	Stomach Mucosa	stomach
48	chr11:75553200-75564400	Weak transcription	Gastric	stomach
49	chr11:75553400-75561000	Weak transcription	Right Ventricle	heart
50	chr11:75553400-75561400	Weak transcription	Psoas Muscle	Psoas

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