Variant report

Variant	rs13184133
Chromosome Location	chr5:37380791-37380792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37369760..37372730-chr5:37375256..37380889,7	MCF-7	breast:
2	chr5:37370037..37373489-chr5:37377973..37381470,5	K562	blood:
3	chr5:37369538..37373129-chr5:37377393..37380859,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113569	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10473043	0.85[EUR][1000 genomes]
rs10941323	0.83[EUR][1000 genomes]
rs10941325	0.83[EUR][1000 genomes]
rs10941327	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10941329	0.80[EUR][1000 genomes]
rs11744730	0.83[EUR][1000 genomes]
rs11750291	0.81[EUR][1000 genomes]
rs12516541	0.83[EUR][1000 genomes]
rs12522481	0.83[EUR][1000 genomes]
rs12659064	0.90[EUR][1000 genomes]
rs12659660	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13159507	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs150594	0.86[EUR][1000 genomes]
rs16903587	0.83[EUR][1000 genomes]
rs16903601	0.83[EUR][1000 genomes]
rs216377	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs216388	0.81[EUR][1000 genomes]
rs216392	0.84[EUR][1000 genomes]
rs216394	0.84[EUR][1000 genomes]
rs216398	0.84[EUR][1000 genomes]
rs217776	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs217778	0.86[EUR][1000 genomes]
rs217790	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs217836	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs217841	0.85[AMR][1000 genomes]
rs217842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2268676	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2272601	0.85[EUR][1000 genomes]
rs2272602	0.81[EUR][1000 genomes]
rs2737076	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2737077	0.86[EUR][1000 genomes]
rs34365665	0.87[EUR][1000 genomes]
rs60574091	0.83[EUR][1000 genomes]
rs61641369	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7716701	0.83[EUR][1000 genomes]
rs7724123	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7729992	0.83[EUR][1000 genomes]
rs7731945	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
13	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
19	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv881076	chr5:37294473-37479198	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
28	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
29	nsv1030797	chr5:37335832-37445040	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
30	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
31	nsv597845	chr5:37369958-37556926	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
32	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
33	nsv968905	chr5:37378041-37390033	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37379800-37381600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:37379800-37381800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:37379800-37381800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:37379800-37382600	Weak transcription	Spleen	Spleen
5	chr5:37379800-37392400	Weak transcription	Esophagus	oesophagus
6	chr5:37379800-37392400	Weak transcription	Left Ventricle	heart
7	chr5:37379800-37434200	Weak transcription	Small Intestine	intestine
8	chr5:37379800-37444400	Weak transcription	Gastric	stomach
9	chr5:37380000-37381200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:37380000-37381400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:37380000-37381400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:37380000-37381600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:37380000-37381600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:37380000-37381800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:37380000-37381800	Weak transcription	Thymus	Thymus
16	chr5:37380000-37382000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:37380000-37383600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:37380000-37383600	Weak transcription	Placenta	Placenta
19	chr5:37380000-37384200	Weak transcription	Lung	lung
20	chr5:37380000-37384400	Weak transcription	Pancreas	Pancrea
21	chr5:37380000-37392400	Weak transcription	Aorta	Aorta
22	chr5:37380000-37392400	Weak transcription	Ovary	ovary
23	chr5:37380000-37392600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:37380000-37396000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:37380000-37396400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:37380000-37399800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:37380000-37400800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:37380000-37405400	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:37380000-37427800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:37380000-37428200	Weak transcription	Stomach Mucosa	stomach
31	chr5:37380000-37443400	Weak transcription	Colonic Mucosa	Colon
32	chr5:37380200-37380800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:37380200-37380800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:37380200-37380800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:37380200-37380800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:37380200-37380800	Weak transcription	Brain Angular Gyrus	brain
37	chr5:37380200-37380800	Enhancers	Brain Germinal Matrix	brain
38	chr5:37380200-37380800	Enhancers	Brain Hippocampus Middle	brain
39	chr5:37380200-37380800	Weak transcription	Fetal Intestine Large	intestine
40	chr5:37380200-37380800	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:37380200-37380800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:37380200-37381200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr5:37380200-37381200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:37380200-37381200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:37380200-37381200	Enhancers	Dnd41	blood
46	chr5:37380200-37381200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:37380200-37381400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:37380200-37381400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:37380200-37381400	Enhancers	Liver	Liver
50	chr5:37380200-37381400	Weak transcription	Fetal Thymus	thymus

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