Variant report

Variant	rs6824747
Chromosome Location	chr4:74080155-74080156
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74064494..74066671-chr4:74079076..74081073,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10938069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12507809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12647948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12649635	1.00[AMR][1000 genomes]
rs13121823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1913150	1.00[AMR][1000 genomes]
rs4403011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4413377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4463038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56349598	1.00[AMR][1000 genomes]
rs57705126	1.00[AMR][1000 genomes]
rs61020873	1.00[AMR][1000 genomes]
rs61741433	1.00[AMR][1000 genomes]
rs62311895	1.00[ASN][1000 genomes]
rs6446915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6446916	1.00[AMR][1000 genomes]
rs6446918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6813601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6822576	1.00[AMR][1000 genomes]
rs6855107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7377358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7657169	1.00[AMR][1000 genomes]
rs9993141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv879486	chr4:74031423-74114322	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1793600	chr4:74046221-74116012	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv879487	chr4:74050725-74090730	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	nsv879488	chr4:74050725-74099754	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv879489	chr4:74050725-74115116	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv3410570	chr4:74055180-74122498	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74036600-74088200	Weak transcription	Colonic Mucosa	Colon
2	chr4:74043200-74088200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:74044400-74081400	Weak transcription	Dnd41	blood
4	chr4:74046800-74087400	Weak transcription	Hela-S3	cervix
5	chr4:74047000-74087400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:74047000-74087600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:74049000-74088200	Weak transcription	HepG2	liver
8	chr4:74056000-74088200	Weak transcription	Fetal Stomach	stomach
9	chr4:74056000-74089600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:74059600-74087400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
13	chr4:74059800-74084600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:74064600-74086600	Weak transcription	Fetal Kidney	kidney
15	chr4:74066200-74085800	Weak transcription	Brain Angular Gyrus	brain
16	chr4:74066200-74087200	Weak transcription	NHLF	lung
17	chr4:74067000-74087200	Weak transcription	Liver	Liver
18	chr4:74068000-74087600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:74068000-74087600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:74068600-74087400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:74068800-74087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:74069800-74082600	Weak transcription	Primary B cells from cord blood	blood
23	chr4:74070000-74087600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:74070000-74088200	Weak transcription	Thymus	Thymus
25	chr4:74071000-74085200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:74071600-74087000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:74072200-74087400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:74072400-74087000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:74072600-74086600	Weak transcription	Fetal Lung	lung
30	chr4:74072800-74088200	Weak transcription	Placenta	Placenta
31	chr4:74073600-74087000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:74074400-74085200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:74074600-74086400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:74074800-74080200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:74074800-74083200	Weak transcription	Fetal Intestine Small	intestine
36	chr4:74074800-74087200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:74074800-74087600	Weak transcription	Aorta	Aorta
38	chr4:74075000-74080200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:74075000-74087600	Weak transcription	Left Ventricle	heart
40	chr4:74075400-74086600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:74075600-74082200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:74075600-74086000	Weak transcription	Brain Anterior Caudate	brain
43	chr4:74075600-74087400	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:74076000-74083800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:74076200-74085000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:74076200-74087400	Weak transcription	Fetal Intestine Large	intestine
47	chr4:74076400-74082400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:74077000-74081800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:74077000-74086000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:74077000-74087400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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