Variant report

Variant	rs4404422
Chromosome Location	chr3:133953649-133953650
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133951157..133954155-chr3:133956985..133958917,3	MCF-7	breast:
2	chr3:133952476..133954777-chr3:133957594..133959346,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10935104	0.93[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs11915143	0.84[EUR][1000 genomes]
rs12635994	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13068409	0.87[ASN][1000 genomes]
rs13075720	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13099506	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28514329	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35015318	0.81[ASN][1000 genomes]
rs35111284	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35432681	0.95[EUR][1000 genomes]
rs35775034	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4077158	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4077643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280635	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs6439464	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6439469	0.93[ASN][1000 genomes]
rs67022177	0.98[ASN][1000 genomes]
rs6783086	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6783294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6786384	0.84[ASN][1000 genomes]
rs6795164	0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs6796404	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6804370	0.93[ASN][1000 genomes]
rs73215351	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7429840	0.93[ASN][1000 genomes]
rs7620941	0.80[ASN][1000 genomes]
rs7623609	0.92[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs7639683	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7641162	0.95[ASN][1000 genomes]
rs9809556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9817270	0.81[ASN][1000 genomes]
rs9822076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9822469	0.87[CHB][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs9822749	0.95[ASN][1000 genomes]
rs9829505	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9839609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846664	0.91[ASN][1000 genomes]
rs9846871	0.81[ASN][1000 genomes]
rs9858000	0.91[ASN][1000 genomes]
rs9859176	0.80[EUR][1000 genomes]
rs9859680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9860060	0.81[ASN][1000 genomes]
rs9860268	0.81[ASN][1000 genomes]
rs9865773	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9865808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877899	0.81[ASN][1000 genomes]
rs9880098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881681	0.81[ASN][1000 genomes]
rs9881896	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9882168	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9882590	0.87[ASN][1000 genomes]
rs9882927	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133930000-133954600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:133930200-133955000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:133930200-133968000	Weak transcription	Fetal Kidney	kidney
4	chr3:133930600-133957800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:133935400-133954600	Weak transcription	HUVEC	blood vessel
6	chr3:133938800-133955200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:133941000-133954600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:133941000-133954800	Weak transcription	Fetal Intestine Large	intestine
9	chr3:133941000-133961600	Weak transcription	Esophagus	oesophagus
10	chr3:133941400-133957200	Weak transcription	Fetal Stomach	stomach
11	chr3:133941400-133967400	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:133943200-133954600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:133943400-133961800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:133943600-133957800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:133943600-133957800	Weak transcription	Lung	lung
16	chr3:133947000-133955200	Weak transcription	Fetal Intestine Small	intestine
17	chr3:133947200-133957200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:133947200-133957800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:133948600-133954600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:133949800-133959600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:133950600-133954400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:133950600-133957200	Weak transcription	Pancreas	Pancrea
23	chr3:133950600-133957800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr3:133950600-133961800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:133950800-133954600	Weak transcription	Spleen	Spleen
26	chr3:133950800-133955600	Weak transcription	Fetal Lung	lung
27	chr3:133950800-133955600	Weak transcription	Right Atrium	heart
28	chr3:133950800-133957200	Weak transcription	Gastric	stomach
29	chr3:133950800-133957800	Weak transcription	Left Ventricle	heart
30	chr3:133951000-133954600	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:133951000-133954600	Weak transcription	Brain Substantia Nigra	brain
32	chr3:133951000-133954600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:133951000-133954600	Weak transcription	Right Ventricle	heart
34	chr3:133951000-133955400	Weak transcription	Stomach Mucosa	stomach
35	chr3:133951200-133953800	Weak transcription	Osteobl	bone
36	chr3:133951200-133954400	Weak transcription	Fetal Heart	heart
37	chr3:133951200-133954600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:133951200-133955200	Weak transcription	NH-A	brain
39	chr3:133951200-133960600	Weak transcription	Thymus	Thymus
40	chr3:133951200-133966800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:133951400-133955600	Weak transcription	HSMM	muscle
42	chr3:133951600-133954400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:133951600-133954400	Weak transcription	HepG2	liver
44	chr3:133951600-133954600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:133951600-133954600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:133951800-133954800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:133951800-133955000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:133951800-133955600	Weak transcription	Psoas Muscle	Psoas
49	chr3:133952000-133954400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:133952000-133954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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