Variant report

Variant	rs6823312
Chromosome Location	chr4:174104407-174104408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174102486..174104486-chr4:174109013..174111128,2	K562	blood:
2	chr4:174089462..174093511-chr4:174101322..174108928,6	MCF-7	breast:
3	chr4:174087322..174089631-chr4:174102847..174104512,2	K562	blood:
4	chr4:174103017..174104985-chr4:174106308..174108785,2	K562	blood:
5	chr4:174102044..174104831-chr4:174106302..174107893,2	MCF-7	breast:
6	chr4:174102924..174105374-chr4:174132748..174134859,2	K562	blood:
7	chr4:174103126..174105789-chr4:174112551..174114903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245213	Chromatin interaction
ENSG00000109586	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28366929	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28523864	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28546457	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28546690	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28601896	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28701034	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6819129	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1823585	chr4:174090209-174107537	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174091600-174113600	Weak transcription	Esophagus	oesophagus
2	chr4:174092800-174106000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:174092800-174109000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:174093600-174109800	Weak transcription	Gastric	stomach
5	chr4:174093800-174105000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:174095000-174109400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:174096200-174111200	Weak transcription	Small Intestine	intestine
8	chr4:174098000-174106400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:174098600-174106200	Weak transcription	Fetal Thymus	thymus
10	chr4:174098800-174104600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:174098800-174108400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:174099000-174106200	Weak transcription	Dnd41	blood
13	chr4:174099000-174109400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:174099200-174111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:174099800-174106000	Weak transcription	K562	blood
16	chr4:174100000-174112200	Weak transcription	Brain Substantia Nigra	brain
17	chr4:174101000-174104600	Enhancers	HSMM	muscle
18	chr4:174101000-174106600	Weak transcription	Primary B cells from cord blood	blood
19	chr4:174101200-174106000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:174101800-174104600	Enhancers	Stomach Mucosa	stomach
21	chr4:174102000-174104600	Enhancers	NHDF-Ad	bronchial
22	chr4:174102000-174106400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:174102400-174104600	Enhancers	HMEC	breast
24	chr4:174102400-174104600	Enhancers	NHLF	lung
25	chr4:174102600-174106600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:174102800-174104600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:174102800-174104600	Enhancers	NHEK	skin
28	chr4:174103200-174105400	Weak transcription	Fetal Intestine Small	intestine
29	chr4:174103200-174106200	Weak transcription	Primary T cells from cord blood	blood
30	chr4:174103200-174106400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:174103200-174106600	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:174103400-174104600	Enhancers	HSMMtube	muscle
33	chr4:174103400-174104800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:174103400-174106400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:174103400-174106800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr4:174103600-174109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:174103800-174104600	Enhancers	A549	lung
38	chr4:174103800-174105200	Strong transcription	Thymus	Thymus
39	chr4:174103800-174106200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:174103800-174106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:174104000-174104600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:174104000-174105400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:174104000-174106000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr4:174104000-174106000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:174104000-174106200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:174104000-174108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:174104000-174109400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:174104000-174109400	Weak transcription	Pancreas	Pancrea
49	chr4:174104000-174109400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:174104000-174112400	Weak transcription	Aorta	Aorta

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