Variant report

Variant	rs17594503
Chromosome Location	chr4:119203221-119203222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:118992420..118994434-chr4:119201679..119204386,2	K562	blood:
2	chr4:119201136..119203299-chr4:119229630..119231943,2	MCF-7	breast:
3	chr4:119200823..119203757-chr4:119253741..119255718,2	K562	blood:
4	chr4:119201789..119203327-chr4:119280623..119282185,2	K562	blood:
5	chr4:119202026..119204755-chr4:119234845..119237518,2	K562	blood:
6	chr4:119203107..119204867-chr4:119240756..119242406,2	K562	blood:
7	chr4:119183189..119185832-chr4:119202442..119204313,2	K562	blood:
8	chr4:119199845..119203643-chr4:119232853..119237501,6	K562	blood:
9	chr4:119202799..119206241-chr4:119218807..119222777,4	MCF-7	breast:
10	chr4:119200823..119205436-chr4:119252231..119259407,8	K562	blood:
11	chr4:119199692..119204423-chr4:119272219..119275323,9	MCF-7	breast:
12	chr4:119203054..119205344-chr4:119252768..119255256,2	MCF-7	breast:
13	chr4:119201888..119204212-chr4:119242827..119245700,4	K562	blood:
14	chr4:119201888..119204212-chr4:119242827..119245536,2	K562	blood:
15	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:
16	chr4:119202174..119205868-chr4:119258505..119262976,4	MCF-7	breast:
17	chr4:119201990..119204479-chr4:119229684..119234050,3	K562	blood:
18	chr4:119202395..119204664-chr4:119270444..119272210,2	MCF-7	breast:
19	chr4:119202015..119204587-chr4:119283908..119285983,2	K562	blood:
20	chr4:117758900..117760975-chr4:119201359..119203236,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164099	Chromatin interaction
ENSG00000201752	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119200200-119203400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr4:119200400-119203400	Transcr. at gene 5' and 3'	K562	blood
3	chr4:119200600-119203400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
4	chr4:119200800-119204000	Weak transcription	Spleen	Spleen
5	chr4:119200800-119212800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:119201000-119203600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:119201000-119204600	Weak transcription	Placenta	Placenta
8	chr4:119201000-119205600	Weak transcription	Aorta	Aorta
9	chr4:119201400-119204000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr4:119201400-119204000	Weak transcription	Pancreas	Pancrea
11	chr4:119201400-119204600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:119201400-119204600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:119201400-119205400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:119201400-119206200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:119201400-119207400	Weak transcription	Esophagus	oesophagus
16	chr4:119201400-119216200	Weak transcription	Lung	lung
17	chr4:119201400-119223800	Weak transcription	Gastric	stomach
18	chr4:119201600-119204800	Weak transcription	Colonic Mucosa	Colon
19	chr4:119201800-119203600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:119201800-119204200	Enhancers	Fetal Heart	heart
21	chr4:119201800-119205200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:119202000-119203400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:119202000-119203400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:119202000-119204800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:119202000-119205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:119202200-119203400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:119202200-119203400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:119202200-119203800	Genic enhancers	Primary T cells from cord blood	blood
29	chr4:119202200-119203800	Weak transcription	Brain Anterior Caudate	brain
30	chr4:119202200-119204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:119202200-119204800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:119202200-119204800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:119202200-119205400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:119202200-119205600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:119202200-119205800	Enhancers	Liver	Liver
36	chr4:119202200-119208800	Weak transcription	Thymus	Thymus
37	chr4:119202200-119209400	Weak transcription	Fetal Stomach	stomach
38	chr4:119202200-119210800	Weak transcription	Brain Angular Gyrus	brain
39	chr4:119202200-119211600	Weak transcription	Brain Germinal Matrix	brain
40	chr4:119202200-119225000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:119202400-119203400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:119202400-119203400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:119202400-119203400	Enhancers	Fetal Brain Male	brain
44	chr4:119202400-119203400	Genic enhancers	HMEC	breast
45	chr4:119202400-119203600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:119202400-119203600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr4:119202400-119203600	Enhancers	Fetal Kidney	kidney
48	chr4:119202400-119203600	Genic enhancers	Fetal Lung	lung
49	chr4:119202400-119204000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:119202400-119204200	Strong transcription	Primary B cells from peripheral blood	blood

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