Variant report

Variant	rs7699427
Chromosome Location	chr4:2898234-2898235
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:2898219-2898251	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2892123..2895002-chr4:2897727..2899403,2	K562	blood:

Variant related genes	Relation type
ADD1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16843459	1.00[AMR][1000 genomes]
rs16843490	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16843682	1.00[AMR][1000 genomes]
rs35304823	1.00[AMR][1000 genomes]
rs35983864	1.00[AMR][1000 genomes]
rs370470	1.00[YRI][hapmap]
rs3846233	0.83[YRI][hapmap]
rs55676948	1.00[AMR][1000 genomes]
rs56315133	1.00[AMR][1000 genomes]
rs57551202	1.00[AMR][1000 genomes]
rs57960709	1.00[AMR][1000 genomes]
rs58279895	1.00[AMR][1000 genomes]
rs60514033	1.00[AMR][1000 genomes]
rs60745500	1.00[AMR][1000 genomes]
rs61652297	1.00[AMR][1000 genomes]
rs61747144	1.00[AMR][1000 genomes]
rs6830234	1.00[AMR][1000 genomes]
rs73792109	1.00[AMR][1000 genomes]
rs73792110	1.00[AMR][1000 genomes]
rs73792112	1.00[AMR][1000 genomes]
rs73792115	1.00[AMR][1000 genomes]
rs73792116	1.00[AMR][1000 genomes]
rs73794816	1.00[AMR][1000 genomes]
rs73794824	1.00[AMR][1000 genomes]
rs73794825	1.00[AMR][1000 genomes]
rs73794827	1.00[AMR][1000 genomes]
rs7657843	1.00[AMR][1000 genomes]
rs7676937	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][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	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
2	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2870200-2914000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:2871200-2900600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:2874200-2900000	Weak transcription	Hela-S3	cervix
4	chr4:2876600-2919200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr4:2877200-2919400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:2880600-2915000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:2883600-2918600	Strong transcription	Fetal Stomach	stomach
8	chr4:2888200-2899200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:2888600-2899600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:2888600-2899800	Weak transcription	Fetal Brain Male	brain
11	chr4:2888800-2899400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:2889200-2899400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:2889600-2898400	Weak transcription	HSMM	muscle
14	chr4:2889600-2898600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:2889600-2900200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:2890000-2900400	Weak transcription	Psoas Muscle	Psoas
17	chr4:2890400-2918000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:2893000-2907800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:2893000-2919400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:2893200-2899000	Strong transcription	Brain Germinal Matrix	brain
21	chr4:2893200-2907600	Strong transcription	Primary T cells from cord blood	blood
22	chr4:2893200-2907600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr4:2893200-2914000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:2893200-2918800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr4:2893200-2918800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr4:2893200-2919200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr4:2893200-2932600	Strong transcription	Fetal Thymus	thymus
28	chr4:2893400-2915800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:2893400-2918800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:2893400-2919000	Strong transcription	Fetal Muscle Leg	muscle
31	chr4:2893800-2909200	Strong transcription	Lung	lung
32	chr4:2893800-2918600	Strong transcription	Thymus	Thymus
33	chr4:2893800-2919000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr4:2894000-2902600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:2894000-2903800	Strong transcription	Fetal Intestine Small	intestine
36	chr4:2894000-2923000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:2894400-2907600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:2894600-2907600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:2894800-2919800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:2895000-2903200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:2895000-2903200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr4:2895000-2903200	Strong transcription	Osteobl	bone
43	chr4:2895000-2907600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:2895000-2917800	Strong transcription	Dnd41	blood
45	chr4:2895200-2901600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:2895200-2903200	Strong transcription	Colonic Mucosa	Colon
47	chr4:2895200-2903200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:2895200-2907800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:2895200-2915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:2895200-2919000	Strong transcription	Rectal Mucosa Donor 29	rectum

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