Variant report

Variant	rs545193196
Chromosome Location	chr4:2960244-2960245
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2948727..2950755-chr4:2959506..2963214,4	K562	blood:
2	chr4:2959980..2962211-chr4:2969909..2971816,3	MCF-7	breast:
3	chr4:2960088..2962960-chr4:3074155..3076323,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125388	Chromatin interaction
ENSG00000251075	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1008527	chr4:2957814-3019042	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1014013	chr4:2959876-3009507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv536999	chr4:2959876-3009507	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2938000-2960400	Weak transcription	Right Atrium	heart
2	chr4:2938200-2962200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:2938400-2962200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:2938600-2960400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:2938600-2960400	Strong transcription	Brain Cingulate Gyrus	brain
6	chr4:2938600-2961000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:2938600-2961600	Strong transcription	Primary T cells from cord blood	blood
8	chr4:2938600-2961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:2938800-2961000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:2938800-2961000	Strong transcription	Primary hematopoietic stem cells	blood
11	chr4:2938800-2961000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:2939000-2961600	Strong transcription	Fetal Stomach	stomach
13	chr4:2939200-2960600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:2939200-2961000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:2939200-2963200	Weak transcription	Fetal Heart	heart
16	chr4:2939400-2960400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr4:2939400-2960400	Strong transcription	NHLF	lung
18	chr4:2939400-2960600	Strong transcription	Brain Hippocampus Middle	brain
19	chr4:2939400-2962200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:2939600-2960800	Strong transcription	Fetal Brain Female	brain
21	chr4:2939600-2961400	Strong transcription	Dnd41	blood
22	chr4:2939600-2961600	Strong transcription	Fetal Thymus	thymus
23	chr4:2939800-2960600	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr4:2939800-2960600	Strong transcription	HepG2	liver
25	chr4:2940000-2960400	Strong transcription	NHEK	skin
26	chr4:2940000-2962200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr4:2941600-2960400	Strong transcription	HMEC	breast
28	chr4:2942600-2960400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:2945200-2960600	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:2945400-2960600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr4:2945400-2961600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr4:2947200-2960600	Strong transcription	Thymus	Thymus
33	chr4:2948800-2963200	Strong transcription	Fetal Intestine Small	intestine
34	chr4:2949000-2961600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr4:2951800-2960600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:2953600-2963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:2954400-2962400	Strong transcription	A549	lung
38	chr4:2954800-2960800	Strong transcription	Hela-S3	cervix
39	chr4:2956000-2963200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr4:2956600-2960400	Strong transcription	Liver	Liver
41	chr4:2956800-2960800	Strong transcription	Left Ventricle	heart
42	chr4:2957000-2960800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:2957200-2960600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:2957200-2960600	Strong transcription	Fetal Lung	lung
45	chr4:2957400-2960400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:2957600-2960600	Strong transcription	Right Ventricle	heart
47	chr4:2957600-2961600	Strong transcription	Primary B cells from cord blood	blood
48	chr4:2957600-2961800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:2957600-2962200	Strong transcription	Fetal Intestine Large	intestine
50	chr4:2957800-2961600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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