Variant report

Variant	rs4711349
Chromosome Location	chr6:33740592-33740593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33731707..33733377-chr6:33739681..33741307,2	K562	blood:
2	chr6:33733922..33735455-chr6:33738926..33740913,2	MCF-7	breast:
3	chr6:33736395..33737905-chr6:33740079..33742724,2	K562	blood:
4	chr6:33738171..33740892-chr6:33996773..33998948,2	K562	blood:
5	chr6:33697484..33700204-chr6:33739217..33741356,2	MCF-7	breast:
6	chr6:33738877..33741098-chr6:33742637..33744175,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12173787	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12190029	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1359781	0.89[AFR][1000 genomes]
rs2281820	0.89[EUR][1000 genomes]
rs2296744	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2296746	0.91[AFR][1000 genomes]
rs2296748	0.91[AFR][1000 genomes]
rs2395402	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711347	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4711348	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711355	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713678	0.82[EUR][1000 genomes]
rs4713679	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4713682	0.88[AFR][1000 genomes]
rs6457741	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6922275	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6929696	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs747694	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs751726	0.86[AFR][1000 genomes]
rs7774620	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357164	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394166	0.91[AFR][1000 genomes]
rs9394167	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs943471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943474	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs943475	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs943478	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs943479	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv462898	chr6:33723383-33768897	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv602840	chr6:33723383-33768897	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33732600-33742400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:33736200-33740600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:33736800-33741000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:33736800-33743400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:33737600-33740600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:33737800-33742600	Weak transcription	Hela-S3	cervix
7	chr6:33738000-33741000	Enhancers	NHDF-Ad	bronchial
8	chr6:33738600-33740600	Genic enhancers	Fetal Intestine Small	intestine
9	chr6:33738600-33741400	Genic enhancers	Fetal Stomach	stomach
10	chr6:33738600-33753200	Strong transcription	Thymus	Thymus
11	chr6:33738800-33740600	Genic enhancers	A549	lung
12	chr6:33738800-33741800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:33738800-33741800	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr6:33739000-33740600	Weak transcription	Fetal Kidney	kidney
15	chr6:33739000-33741400	Enhancers	Fetal Brain Male	brain
16	chr6:33739000-33741400	Enhancers	HSMM	muscle
17	chr6:33739000-33741600	Enhancers	HSMMtube	muscle
18	chr6:33739000-33746000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:33739600-33741400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:33739600-33742000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:33739600-33752600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:33739600-33754000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr6:33739800-33740600	Genic enhancers	Adipose Nuclei	Adipose
24	chr6:33739800-33740600	Genic enhancers	Fetal Intestine Large	intestine
25	chr6:33739800-33740600	Enhancers	Ovary	ovary
26	chr6:33739800-33740800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:33739800-33740800	Genic enhancers	Spleen	Spleen
28	chr6:33739800-33741000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:33739800-33741000	Genic enhancers	Fetal Thymus	thymus
30	chr6:33739800-33741000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:33739800-33741000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:33739800-33741400	Genic enhancers	Placenta	Placenta
33	chr6:33739800-33741600	Genic enhancers	Esophagus	oesophagus
34	chr6:33739800-33741600	Genic enhancers	Fetal Muscle Leg	muscle
35	chr6:33739800-33741800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:33739800-33741800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:33739800-33741800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:33739800-33741800	Genic enhancers	Brain Hippocampus Middle	brain
39	chr6:33739800-33741800	Genic enhancers	NHLF	lung
40	chr6:33739800-33742000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:33739800-33742000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:33739800-33742400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:33739800-33742600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:33739800-33752400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:33739800-33752600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:33739800-33753000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr6:33739800-33753000	Strong transcription	Primary T cells from cord blood	blood
48	chr6:33739800-33753000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:33739800-33753600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:33740000-33740600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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