Variant report

Variant	rs550174229
Chromosome Location	chr11:75060629-75060630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75056062..75061130-chr11:75109293..75114170,7	MCF-7	breast:
2	chr11:75041535..75043406-chr11:75058885..75060928,2	K562	blood:
3	chr11:75044487..75045050-chr11:75060430..75061020,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases
4	esv3374722	chr11:75060004-75064302	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75039400-75060800	Enhancers	Placenta	Placenta
2	chr11:75046400-75061200	Enhancers	Fetal Thymus	thymus
3	chr11:75046800-75061600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:75047000-75061200	Enhancers	Left Ventricle	heart
5	chr11:75047000-75061200	Enhancers	Stomach Mucosa	stomach
6	chr11:75047800-75060800	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:75048000-75061600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr11:75048400-75061000	Enhancers	Liver	Liver
9	chr11:75052200-75061200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr11:75052200-75061400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:75052400-75061200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:75052400-75061200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:75052400-75061800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:75053400-75061600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:75054600-75062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:75055400-75061400	Enhancers	Right Ventricle	heart
17	chr11:75055600-75061800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:75056000-75061600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:75056200-75062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:75056600-75060800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:75056600-75061800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:75056800-75060800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
23	chr11:75057200-75060800	Enhancers	Fetal Muscle Leg	muscle
24	chr11:75057200-75062000	Enhancers	Fetal Heart	heart
25	chr11:75057400-75061200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:75057400-75061800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:75057400-75061800	Enhancers	NHDF-Ad	bronchial
28	chr11:75057600-75062600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr11:75057800-75061200	Enhancers	Ovary	ovary
30	chr11:75057800-75061600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:75057800-75061600	Enhancers	NHLF	lung
32	chr11:75058000-75061200	Enhancers	HSMM	muscle
33	chr11:75058000-75061600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:75058200-75060800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:75058200-75061200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:75058200-75061200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr11:75058400-75060800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:75058600-75060800	Weak transcription	GM12878-XiMat	blood
39	chr11:75058600-75061200	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:75058600-75062000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:75058800-75061200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:75059000-75061200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:75059200-75061200	Enhancers	Fetal Brain Male	brain
44	chr11:75059200-75061800	Weak transcription	Fetal Kidney	kidney
45	chr11:75059400-75061600	Enhancers	Small Intestine	intestine
46	chr11:75059400-75061800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:75059400-75061800	Weak transcription	HMEC	breast
48	chr11:75059400-75062200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:75059600-75060800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:75059600-75061600	Weak transcription	Muscle Satellite Cultured Cells	--

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