Variant report

Variant	rs1972011
Chromosome Location	chr4:95463151-95463152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95455231..95457643-chr4:95461903..95464194,2	K562	blood:
2	chr4:95457924..95459634-chr4:95461855..95464045,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10019142	0.83[ASN][1000 genomes]
rs1032420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645971	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13110115	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13143502	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13146878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452008	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452010	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2452569	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2452570	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452571	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2452572	0.85[ASN][1000 genomes]
rs2452574	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2452575	0.81[ASN][1000 genomes]
rs2452576	0.80[ASN][1000 genomes]
rs2452580	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452582	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452585	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452586	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452589	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2510772	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510775	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2510776	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510779	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2510780	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510781	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28740868	0.86[ASN][1000 genomes]
rs3792666	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805285	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4699505	0.80[ASN][1000 genomes]
rs902981	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95442000-95469600	Weak transcription	Primary T cells from cord blood	blood
3	chr4:95449200-95470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:95450400-95465800	Weak transcription	Lung	lung
5	chr4:95453800-95465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:95456200-95463200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:95456800-95465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:95456800-95469800	Weak transcription	Ovary	ovary
9	chr4:95456800-95470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:95457000-95469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:95457400-95465800	Weak transcription	Pancreas	Pancrea
12	chr4:95457400-95469800	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:95457400-95470000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:95457600-95465600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:95457800-95466400	Weak transcription	Brain Substantia Nigra	brain
17	chr4:95458000-95469800	Weak transcription	Small Intestine	intestine
18	chr4:95458000-95480400	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:95458200-95465600	Weak transcription	NHLF	lung
20	chr4:95458200-95483000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:95458400-95465200	Weak transcription	HepG2	liver
23	chr4:95458400-95468600	Weak transcription	Liver	Liver
24	chr4:95458400-95469800	Weak transcription	Fetal Intestine Large	intestine
25	chr4:95459000-95465200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:95459000-95473000	Weak transcription	Fetal Kidney	kidney
27	chr4:95459000-95480400	Weak transcription	Adipose Nuclei	Adipose
28	chr4:95459600-95464600	Weak transcription	HSMM	muscle
29	chr4:95459600-95471000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:95459800-95465200	Weak transcription	NH-A	brain
31	chr4:95459800-95465200	Weak transcription	NHDF-Ad	bronchial
32	chr4:95459800-95466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:95459800-95481200	Weak transcription	Aorta	Aorta
34	chr4:95460000-95464600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:95460000-95466000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:95460200-95472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:95460400-95464600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:95460400-95465600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:95460400-95469800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:95460800-95464800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:95461000-95463200	Enhancers	Placenta	Placenta
42	chr4:95461400-95463200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr4:95461400-95463200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:95461600-95463200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:95461800-95463200	Strong transcription	Osteobl	bone
46	chr4:95462200-95463600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:95462200-95466400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:95462200-95468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:95462400-95463600	Genic enhancers	HUVEC	blood vessel
50	chr4:95462400-95465200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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