Variant report

Variant	rs2211474
Chromosome Location	chr4:3044957-3044958
allele	G/T
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	YY1	chr4:3044351-3045372	H1-hESC	embryonic stem cell:	n/a	chr4:3045062-3045074 chr4:3044462-3044473
2	YY1	chr4:3044936-3045272	H1-hESC	embryonic stem cell:	n/a	chr4:3045062-3045074

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3038856..3040749-chr4:3043216..3045055,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-204P	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1008210	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1010290	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1313768	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1313771	0.95[ASN][1000 genomes]
rs1557213	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1801058	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2071688	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2071689	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2157097	0.90[ASN][1000 genomes]
rs2187694	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2187695	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2471347	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2798286	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2798298	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2798303	0.90[ASN][1000 genomes]
rs2798304	0.90[ASN][1000 genomes]
rs2857839	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2857840	0.90[ASN][1000 genomes]
rs2857841	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2857849	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2857852	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs732859	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak 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	52 gene(s)	inside rSNPs	diseases
5	nsv1013440	chr4:2993130-3053503	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:3043200-3045000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:3043200-3046000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:3043600-3045600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:3043600-3047400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:3044000-3045600	Enhancers	Fetal Heart	heart
6	chr4:3044000-3046800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:3044000-3048600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:3044000-3049400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:3044200-3045000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:3044200-3045000	Enhancers	Left Ventricle	heart
11	chr4:3044200-3045600	Weak transcription	Small Intestine	intestine
12	chr4:3044200-3045800	Enhancers	Placenta	Placenta
13	chr4:3044200-3046400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:3044200-3046800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:3044200-3047000	Weak transcription	Primary T cells from cord blood	blood
16	chr4:3044200-3047200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:3044200-3049000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr4:3044200-3049400	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:3044200-3049400	Weak transcription	HUVEC	blood vessel
20	chr4:3044400-3045400	Enhancers	Fetal Lung	lung
21	chr4:3044400-3046000	Weak transcription	Fetal Intestine Large	intestine
22	chr4:3044400-3046200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:3044400-3046400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:3044400-3046400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:3044400-3046400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:3044400-3046400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:3044400-3046600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:3044400-3047000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:3044400-3047000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:3044400-3047000	Weak transcription	NHDF-Ad	bronchial
31	chr4:3044400-3049200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:3044400-3049200	Weak transcription	Stomach Mucosa	stomach
33	chr4:3044400-3050800	Enhancers	Primary B cells from peripheral blood	blood
34	chr4:3044600-3045000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr4:3044600-3045400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr4:3044600-3045400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr4:3044600-3045600	Enhancers	GM12878-XiMat	blood
38	chr4:3044600-3046000	Weak transcription	Esophagus	oesophagus
39	chr4:3044600-3046200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:3044600-3046400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:3044600-3046400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:3044600-3046400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr4:3044600-3046400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:3044600-3046400	Weak transcription	Fetal Intestine Small	intestine
45	chr4:3044600-3046400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:3044600-3046600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:3044600-3046600	Weak transcription	Spleen	Spleen
48	chr4:3044600-3046800	Weak transcription	Osteobl	bone
49	chr4:3044600-3047000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:3044600-3047000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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