Variant report

Variant	rs531074043
Chromosome Location	chr5:74818023-74818024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74805731..74808646-chr5:74817149..74819644,4	MCF-7	breast:
2	chr5:74815294..74818982-chr5:74820247..74823584,4	K562	blood:

Variant related genes	Relation type
ENSG00000122008	Chromatin interaction
ENSG00000113163	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882200	chr5:74781439-74830808	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3385195	chr5:74810245-74843686	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv882203	chr5:74811497-74832919	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv882204	chr5:74811497-74856142	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv882205	chr5:74811497-74862921	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv598674	chr5:74816849-74831498	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv598675	chr5:74816849-74831615	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74808600-74819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:74808800-74849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:74809000-74819600	Weak transcription	Placenta	Placenta
4	chr5:74809000-74820000	Weak transcription	Colonic Mucosa	Colon
5	chr5:74809400-74830600	Weak transcription	Fetal Kidney	kidney
6	chr5:74809600-74820600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:74809600-74830200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:74809600-74839400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
10	chr5:74812400-74818400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:74813800-74818400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:74814600-74818400	ZNF genes & repeats	GM12878-XiMat	blood
13	chr5:74815000-74819600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:74815000-74832200	Weak transcription	Right Ventricle	heart
15	chr5:74816000-74818400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
16	chr5:74816200-74818200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr5:74816200-74818200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:74816200-74818200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
19	chr5:74816200-74818200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr5:74816200-74818400	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr5:74816200-74818400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:74816400-74818200	ZNF genes & repeats	A549	lung
23	chr5:74816600-74818200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:74816600-74818200	ZNF genes & repeats	NHDF-Ad	bronchial
25	chr5:74816800-74819200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:74817200-74818200	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr5:74817400-74818200	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr5:74817600-74818200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr5:74817600-74818200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
30	chr5:74817600-74818200	ZNF genes & repeats	Thymus	Thymus
31	chr5:74817600-74818200	ZNF genes & repeats	K562	blood
32	chr5:74817600-74818400	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr5:74817600-74831800	Weak transcription	Dnd41	blood
34	chr5:74817800-74818200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:74817800-74818200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:74817800-74819000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:74817800-74819000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr5:74817800-74819000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:74817800-74819200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:74817800-74820400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:74817800-74820600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:74817800-74822400	Weak transcription	Spleen	Spleen
43	chr5:74818000-74818200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:74818000-74818200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:74818000-74818200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:74818000-74818200	Weak transcription	NHLF	lung
47	chr5:74818000-74818600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:74818000-74818800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:74818000-74818800	Weak transcription	HMEC	breast
50	chr5:74818000-74819000	Weak transcription	Monocytes-CD14+_RO01746	blood

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