Variant report

Variant	rs7944040
Chromosome Location	chr11:68101356-68101357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68080461..68082333-chr11:68100487..68103189,2	MCF-7	breast:
2	chr11:68099361..68102252-chr11:68142403..68144649,2	MCF-7	breast:
3	chr11:68079123..68081398-chr11:68099177..68102026,2	MCF-7	breast:
4	chr11:68093360..68101748-chr11:68101910..68108308,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs160607	0.81[CEU][hapmap]
rs312778	0.81[CEU][hapmap]
rs312779	0.81[CEU][hapmap]
rs312783	0.81[CEU][hapmap]
rs312788	0.81[CEU][hapmap]
rs312792	0.81[CEU][hapmap]
rs314775	0.82[CEU][hapmap]
rs4988308	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74744	0.82[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	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68083800-68102400	Weak transcription	K562	blood
2	chr11:68091000-68102000	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:68095600-68102000	Enhancers	Liver	Liver
4	chr11:68096200-68103000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:68096400-68102200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:68096400-68103200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:68096600-68109400	Weak transcription	Brain Angular Gyrus	brain
8	chr11:68096600-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:68097600-68103600	Weak transcription	HMEC	breast
10	chr11:68097600-68104200	Weak transcription	NHEK	skin
11	chr11:68098000-68109200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:68098200-68105000	Weak transcription	Aorta	Aorta
13	chr11:68098400-68103000	Weak transcription	A549	lung
14	chr11:68098400-68105000	Weak transcription	Hela-S3	cervix
15	chr11:68098400-68115000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:68098600-68108400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:68098800-68103000	Weak transcription	HSMMtube	muscle
18	chr11:68098800-68103200	Weak transcription	Esophagus	oesophagus
19	chr11:68098800-68104200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:68098800-68104400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:68098800-68105600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:68098800-68107800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:68099000-68102000	Enhancers	Fetal Intestine Large	intestine
24	chr11:68099000-68103000	Weak transcription	Brain Anterior Caudate	brain
25	chr11:68099000-68103000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:68099000-68103200	Weak transcription	Psoas Muscle	Psoas
27	chr11:68099000-68104200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:68099000-68104600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:68099000-68104600	Weak transcription	HSMM	muscle
30	chr11:68099000-68109000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:68099200-68103000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:68099200-68103200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:68099200-68104400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:68099200-68104400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr11:68099200-68104600	Weak transcription	GM12878-XiMat	blood
36	chr11:68099200-68108800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:68099400-68102800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:68099400-68103000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:68099400-68104000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:68099400-68104400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:68099400-68104400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:68099400-68104600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:68099400-68104600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:68099400-68104600	Weak transcription	Colonic Mucosa	Colon
45	chr11:68099400-68105200	Weak transcription	Ovary	ovary
46	chr11:68099600-68104600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:68099800-68102600	Weak transcription	Fetal Stomach	stomach
48	chr11:68099800-68105400	Weak transcription	Fetal Brain Female	brain
49	chr11:68099800-68108400	Weak transcription	Fetal Kidney	kidney
50	chr11:68099800-68108600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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