Variant report

Variant	rs34993433
Chromosome Location	chr4:2824114-2824115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2822103..2824509-chr4:2824545..2827389,5	MCF-7	breast:
2	chr4:2824106..2825900-chr4:2826724..2829024,2	K562	blood:
3	chr4:2822347..2826976-chr4:2843259..2846653,5	MCF-7	breast:
4	chr4:2794084..2803742-chr4:2816227..2824357,23	MCF-7	breast:
5	chr4:2819835..2821345-chr4:2824048..2826876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087274	Chromatin interaction
ENSG00000087266	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13137906	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1784148	0.85[ASN][1000 genomes]
rs1784149	0.85[ASN][1000 genomes]
rs2269484	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2269485	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282770	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282771	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213501	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs370470	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs385715	0.81[ASN][1000 genomes]
rs393635	0.81[ASN][1000 genomes]
rs397292	0.84[ASN][1000 genomes]
rs402855	0.85[ASN][1000 genomes]
rs407770	0.84[ASN][1000 genomes]
rs419096	0.84[ASN][1000 genomes]
rs421714	0.91[ASN][1000 genomes]
rs422734	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs426192	0.80[EUR][1000 genomes]
rs426904	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs433030	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs445160	0.91[ASN][1000 genomes]
rs450080	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6820967	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9685721	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv878449	chr4:2744480-2831383	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	nsv878452	chr4:2789184-2830076	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	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
15	nsv461162	chr4:2794320-2846799	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv593436	chr4:2794320-2846799	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2815800-2827000	Weak transcription	Fetal Heart	heart
2	chr4:2820000-2825000	Weak transcription	Brain Substantia Nigra	brain
3	chr4:2820400-2824200	Strong transcription	Liver	Liver
4	chr4:2820400-2827600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:2820600-2824200	Weak transcription	Left Ventricle	heart
6	chr4:2820600-2825400	Weak transcription	Osteobl	bone
7	chr4:2820600-2825600	Weak transcription	Brain Anterior Caudate	brain
8	chr4:2820600-2825800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:2820600-2827200	Weak transcription	Aorta	Aorta
10	chr4:2820600-2827200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:2820600-2832400	Weak transcription	NHDF-Ad	bronchial
12	chr4:2820600-2839000	Weak transcription	Right Atrium	heart
13	chr4:2820600-2839200	Weak transcription	Brain Angular Gyrus	brain
14	chr4:2820600-2844600	Weak transcription	Psoas Muscle	Psoas
15	chr4:2820800-2824200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:2820800-2824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:2820800-2824600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:2820800-2824600	Weak transcription	NHLF	lung
19	chr4:2820800-2826200	Weak transcription	HSMM	muscle
20	chr4:2820800-2827000	Weak transcription	Fetal Kidney	kidney
21	chr4:2820800-2828200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:2820800-2835200	Weak transcription	HUVEC	blood vessel
23	chr4:2820800-2835400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr4:2820800-2839600	Weak transcription	NHEK	skin
25	chr4:2821000-2824400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:2821000-2824600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:2821000-2824800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:2821000-2825000	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:2821000-2825200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:2821000-2844400	Weak transcription	HMEC	breast
31	chr4:2821200-2831400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:2821200-2834200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr4:2821200-2835400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:2821400-2825000	Strong transcription	Fetal Intestine Small	intestine
35	chr4:2821400-2828600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:2821400-2836200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:2821400-2837800	Weak transcription	Small Intestine	intestine
38	chr4:2821600-2824600	Strong transcription	Right Ventricle	heart
39	chr4:2821600-2825000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:2821600-2827000	Weak transcription	GM12878-XiMat	blood
41	chr4:2821600-2827400	Strong transcription	Fetal Stomach	stomach
42	chr4:2821600-2835400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:2821800-2824200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:2821800-2824400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:2821800-2828600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:2821800-2828600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:2821800-2835800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:2821800-2835800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:2821800-2838000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:2821800-2838000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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