Variant report

Variant	rs75957797
Chromosome Location	chr4:2848029-2848030
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2847502..2850014-chr4:2935362..2937925,4	MCF-7	breast:
2	chr4:2846265..2848875-chr4:2873594..2875378,2	K562	blood:
3	chr4:2818404..2821312-chr4:2845258..2848491,3	MCF-7	breast:
4	chr4:2843310..2847623-chr4:2847879..2851865,7	K562	blood:
5	chr4:2842030..2853279-chr4:2934021..2940851,24	MCF-7	breast:
6	chr4:2821326..2822981-chr4:2847695..2849369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087266	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000087274	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv521858	chr4:2846799-2881256	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2845000-2848200	Active TSS	Brain Germinal Matrix	brain
2	chr4:2846000-2848200	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr4:2846200-2848200	Flanking Active TSS	Dnd41	blood
4	chr4:2846400-2848200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr4:2846400-2851000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:2846600-2854400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:2846600-2862400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:2846800-2848200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:2846800-2848400	Enhancers	Liver	Liver
10	chr4:2846800-2848400	Weak transcription	Lung	lung
11	chr4:2846800-2849000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:2846800-2849200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:2846800-2849400	Enhancers	Primary hematopoietic stem cells	blood
14	chr4:2846800-2851000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:2846800-2854200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:2846800-2855400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:2846800-2855400	Weak transcription	Placenta	Placenta
18	chr4:2846800-2855600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:2846800-2857400	Weak transcription	Aorta	Aorta
20	chr4:2846800-2861800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:2846800-2861800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:2846800-2862000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:2846800-2862600	Weak transcription	Esophagus	oesophagus
24	chr4:2847000-2848200	Enhancers	Fetal Intestine Small	intestine
25	chr4:2847000-2848200	Enhancers	Hela-S3	cervix
26	chr4:2847000-2848400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:2847000-2848400	Weak transcription	Pancreas	Pancrea
28	chr4:2847000-2849000	Weak transcription	Spleen	Spleen
29	chr4:2847000-2849600	Weak transcription	Gastric	stomach
30	chr4:2847000-2850600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:2847000-2851000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:2847200-2848200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:2847200-2848200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr4:2847200-2848400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr4:2847200-2848400	Weak transcription	Left Ventricle	heart
36	chr4:2847200-2849400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:2847200-2849600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr4:2847200-2849600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr4:2847200-2850200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:2847200-2850400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:2847200-2850800	Weak transcription	Fetal Brain Female	brain
42	chr4:2847200-2851200	Weak transcription	HSMM	muscle
43	chr4:2847200-2852000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:2847200-2853600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:2847200-2862200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:2847400-2848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:2847400-2848200	Enhancers	Brain Hippocampus Middle	brain
48	chr4:2847400-2848200	Enhancers	Fetal Brain Male	brain
49	chr4:2847400-2848200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr4:2847400-2848200	Enhancers	NHLF	lung

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