Variant report

Variant	rs73229818
Chromosome Location	chr4:10019884-10019885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10019361..10022054-chr4:10108000..10110178,2	K562	blood:
2	chr4:10019661..10022849-chr4:10023062..10025452,3	K562	blood:
3	chr4:10015413..10017936-chr4:10018958..10020655,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109667	Chromatin interaction
ENSG00000071127	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10008035	0.83[EUR][1000 genomes]
rs10011206	0.81[EUR][1000 genomes]
rs10030570	1.00[ASN][1000 genomes]
rs10516198	0.81[ASN][1000 genomes]
rs1122966	1.00[ASN][1000 genomes]
rs16891234	0.84[EUR][1000 genomes]
rs28449404	1.00[ASN][1000 genomes]
rs3733587	0.81[EUR][1000 genomes]
rs3775940	0.85[ASN][1000 genomes]
rs3775945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796830	1.00[ASN][1000 genomes]
rs3796833	1.00[ASN][1000 genomes]
rs3796834	1.00[ASN][1000 genomes]
rs3796837	0.85[ASN][1000 genomes]
rs4318649	0.85[ASN][1000 genomes]
rs4318650	0.85[ASN][1000 genomes]
rs4543113	0.82[ASN][1000 genomes]
rs4547795	0.81[EUR][1000 genomes]
rs55811736	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59871456	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449217	0.82[ASN][1000 genomes]
rs6449237	0.93[ASN][1000 genomes]
rs6449238	1.00[ASN][1000 genomes]
rs6814556	0.88[ASN][1000 genomes]
rs6819833	1.00[ASN][1000 genomes]
rs6820230	1.00[ASN][1000 genomes]
rs6827754	0.85[ASN][1000 genomes]
rs6827785	0.85[ASN][1000 genomes]
rs6833878	0.94[ASN][1000 genomes]
rs6845554	0.85[ASN][1000 genomes]
rs6849273	0.85[ASN][1000 genomes]
rs6850166	0.85[ASN][1000 genomes]
rs6857001	1.00[ASN][1000 genomes]
rs73229828	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229842	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7669699	0.84[ASN][1000 genomes]
rs7696536	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7696895	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7697004	1.00[ASN][1000 genomes]
rs7697416	1.00[ASN][1000 genomes]
rs9291645	0.87[ASN][1000 genomes]
rs9992406	0.81[EUR][1000 genomes]
rs9998739	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533218	chr4:9371016-10252290	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
2	nsv530090	chr4:9383695-10165033	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	nsv1014216	chr4:9713612-10223836	Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
4	nsv1010249	chr4:9716101-10086188	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv878681	chr4:9802853-10397327	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
6	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA	54 gene(s)	inside rSNPs	diseases
7	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription 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 miRNA	56 gene(s)	inside rSNPs	diseases
10	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
11	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
12	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
13	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
14	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active 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 miRNA	58 gene(s)	inside rSNPs	diseases
15	esv2763339	chr4:9858426-10056376	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv537026	chr4:9903566-10262258	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
17	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
18	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription 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 miRNA	58 gene(s)	inside rSNPs	diseases
19	esv2752052	chr4:9911872-10313111	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
20	nsv878688	chr4:9915850-10038112	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
22	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
23	nsv532706	chr4:9948018-10451450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong 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 miRNA	50 gene(s)	inside rSNPs	diseases
24	nsv1013022	chr4:9961220-10230042	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS 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	46 gene(s)	inside rSNPs	diseases
25	nsv537028	chr4:9961220-10230042	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
26	nsv537029	chr4:9961220-10262258	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
27	nsv878691	chr4:9966477-10418078	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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 miRNA	50 gene(s)	inside rSNPs	diseases
28	nsv1013487	chr4:9972011-10320963	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
29	nsv829857	chr4:9982514-10155835	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 miRNA	43 gene(s)	inside rSNPs	diseases
30	nsv469621	chr4:9987670-10142287	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
31	nsv482719	chr4:9987670-10142287	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
32	nsv1008067	chr4:10004664-10262258	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
33	nsv537030	chr4:10004664-10262258	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
34	nsv593691	chr4:10013173-10050141	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9998400-10020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:10008600-10020200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:10008800-10020200	Weak transcription	Aorta	Aorta
4	chr4:10008800-10020400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:10009000-10020400	Weak transcription	Lung	lung
6	chr4:10009400-10020000	Weak transcription	Colonic Mucosa	Colon
7	chr4:10010000-10020200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:10010000-10020400	Weak transcription	Esophagus	oesophagus
9	chr4:10010000-10021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:10011000-10020000	Weak transcription	Stomach Mucosa	stomach
11	chr4:10011000-10020200	Weak transcription	Right Atrium	heart
12	chr4:10011800-10020400	Weak transcription	Gastric	stomach
13	chr4:10012200-10020200	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:10014200-10020000	Weak transcription	Fetal Brain Male	brain
15	chr4:10014200-10020000	Strong transcription	Fetal Intestine Small	intestine
16	chr4:10016600-10020600	Enhancers	Liver	Liver
17	chr4:10017000-10020600	Weak transcription	GM12878-XiMat	blood
18	chr4:10017200-10020200	Weak transcription	Brain Germinal Matrix	brain
19	chr4:10017400-10020200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:10017600-10020000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:10017600-10020000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:10017600-10020000	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:10017600-10020600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:10017600-10020600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:10017600-10020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:10017800-10020200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:10017800-10020200	Weak transcription	Fetal Stomach	stomach
28	chr4:10017800-10020400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:10017800-10020600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:10017800-10020800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:10018800-10020000	Enhancers	Duodenum Mucosa	Duodenum
32	chr4:10019200-10020400	Enhancers	Pancreas	Pancrea
33	chr4:10019400-10020600	Flanking Active TSS	HepG2	liver
34	chr4:10019400-10020800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:10019600-10020000	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr4:10019600-10020000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:10019600-10020000	Enhancers	Brain Anterior Caudate	brain
38	chr4:10019600-10020000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr4:10019600-10020200	Enhancers	Brain Angular Gyrus	brain
40	chr4:10019600-10020200	Weak transcription	Fetal Intestine Large	intestine
41	chr4:10019600-10020200	Enhancers	Fetal Muscle Trunk	muscle
42	chr4:10019600-10020200	Enhancers	Right Ventricle	heart
43	chr4:10019600-10020400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:10019600-10020400	Enhancers	Placenta	Placenta
45	chr4:10019600-10020400	Active TSS	Stomach Smooth Muscle	stomach
46	chr4:10019600-10022200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:10019800-10020000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:10019800-10020000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr4:10019800-10020000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:10019800-10020000	Enhancers	NHLF	lung

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