Variant report

Variant	rs537006598
Chromosome Location	chr3:150124902-150124903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr3:150124635-150128185	K562	blood:	n/a	n/a
2	POLR2A	chr3:150124821-150129086	SK-N-MC	brain:	n/a	n/a
3	JUN	chr3:150124199-150130937	K562	blood:	n/a	chr3:150126610-150126621 chr3:150126364-150126373 chr3:150126007-150126016 chr3:150126003-150126016 chr3:150125540-150125551 chr3:150125537-150125549 chr3:150130480-150130492 chr3:150127088-150127099
4	JUND	chr3:150124892-150128974	SK-N-SH	brain:	n/a	chr3:150126610-150126621 chr3:150126364-150126373 chr3:150126007-150126016 chr3:150125540-150125551 chr3:150125537-150125549 chr3:150127088-150127099
5	POLR2A	chr3:150124838-150130078	PANC-1	pancreas:	n/a	n/a
6	CHD1	chr3:150124409-150133231	IMR90	lung:	n/a	chr3:150126810-150126820
7	POLR2A	chr3:150124627-150127052	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr3:150124872-150128185	IMR90	lung:	n/a	n/a
9	EP300	chr3:150124785-150126900	K562	blood:	n/a	chr3:150126363-150126372 chr3:150126547-150126563 chr3:150126546-150126562 chr3:150126310-150126319 chr3:150126301-150126317 chr3:150126553-150126569
10	ARID3A	chr3:150124301-150126226	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:149953695..149960076-chr3:150124777..150129995,22	MCF-7	breast:
2	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
3	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
4	chr3:150124105..150129008-chr3:150174357..150179992,6	MCF-7	breast:
5	chr3:150116751..150119532-chr3:150121582..150125856,6	K562	blood:
6	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
7	chr19:55917718..55920668-chr3:150122792..150125732,2	K562	blood:
8	chr3:150105305..150107998-chr3:150123098..150125972,3	K562	blood:
9	chr3:150124642..150128245-chr3:150263775..150265951,4	K562	blood:
10	chr3:150101805..150104730-chr3:150121434..150125041,3	K562	blood:
11	chr3:149953873..149961412-chr3:150123750..150131229,19	MCF-7	breast:
12	chr3:150124887..150127352-chr3:150262732..150264840,2	MCF-7	breast:

Variant related genes	Relation type
TSC22D2	TF binding region
ENSG00000120742	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1818335	chr3:150122121-150128717	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv14316	chr3:150124574-150128485	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150117000-150125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:150117200-150125000	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:150117400-150125000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:150121600-150125200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:150121800-150125000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:150122200-150125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:150122200-150125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:150123600-150125200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr3:150123800-150125000	Weak transcription	Small Intestine	intestine
10	chr3:150124000-150125000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:150124400-150125200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:150124600-150125000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:150124600-150125000	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:150124600-150125000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:150124600-150125000	Enhancers	Duodenum Mucosa	Duodenum
16	chr3:150124600-150125000	Enhancers	Fetal Intestine Large	intestine
17	chr3:150124600-150125000	Enhancers	Fetal Intestine Small	intestine
18	chr3:150124600-150125000	Flanking Active TSS	Fetal Lung	lung
19	chr3:150124600-150125000	Enhancers	Fetal Stomach	stomach
20	chr3:150124600-150125000	Enhancers	A549	lung
21	chr3:150124600-150125000	Enhancers	Dnd41	blood
22	chr3:150124600-150125000	Flanking Active TSS	K562	blood
23	chr3:150124600-150125000	Enhancers	NH-A	brain
24	chr3:150124600-150125200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr3:150124600-150125200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:150124600-150125200	Flanking Active TSS	HUVEC	blood vessel
27	chr3:150124600-150125200	Flanking Active TSS	NHDF-Ad	bronchial
28	chr3:150124600-150125200	Flanking Active TSS	Osteobl	bone
29	chr3:150124600-150125400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:150124600-150126200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:150124600-150127000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr3:150124600-150127400	Active TSS	NHLF	lung
33	chr3:150124600-150130600	Active TSS	Aorta	Aorta
34	chr3:150124600-150132200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:150124600-150133000	Active TSS	Fetal Kidney	kidney
36	chr3:150124600-150133000	Active TSS	Right Atrium	heart
37	chr3:150124800-150125000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:150124800-150125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:150124800-150125000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr3:150124800-150125000	Enhancers	Primary B cells from cord blood	blood
41	chr3:150124800-150125000	Enhancers	Primary T cells from cord blood	blood
42	chr3:150124800-150125000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr3:150124800-150125000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:150124800-150125000	Active TSS	Adipose Nuclei	Adipose
45	chr3:150124800-150125000	Enhancers	Liver	Liver
46	chr3:150124800-150125000	Enhancers	Brain Angular Gyrus	brain
47	chr3:150124800-150125000	Enhancers	Brain Cingulate Gyrus	brain
48	chr3:150124800-150125000	Enhancers	Brain Germinal Matrix	brain
49	chr3:150124800-150125000	Enhancers	Brain Hippocampus Middle	brain
50	chr3:150124800-150125000	Enhancers	Colon Smooth Muscle	Colon

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