Variant report

Variant	rs56227134
Chromosome Location	chr3:99825641-99825642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99824566..99827105-chr3:99830597..99832323,2	MCF-7	breast:
2	chr3:99807438..99810251-chr3:99824386..99825972,2	K562	blood:
3	chr3:99823372..99826279-chr3:99859359..99861519,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs403858	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55721822	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55978866	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56186146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56678433	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58283662	1.00[AMR][1000 genomes]
rs58953554	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59674041	1.00[AMR][1000 genomes]
rs62636639	1.00[AMR][1000 genomes]
rs6441136	1.00[AMR][1000 genomes]
rs6783067	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73858965	0.82[AFR][1000 genomes]
rs73858967	0.82[AFR][1000 genomes]
rs73859912	0.82[AFR][1000 genomes]
rs73859914	0.82[AFR][1000 genomes]
rs73859915	0.82[AFR][1000 genomes]
rs73859916	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73859919	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73859921	1.00[AMR][1000 genomes]
rs73859924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73859925	1.00[AFR][1000 genomes]
rs73859931	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73860476	0.82[AFR][1000 genomes]
rs73862419	1.00[AMR][1000 genomes]
rs73862437	1.00[AMR][1000 genomes]
rs73862440	1.00[AMR][1000 genomes]
rs73862445	1.00[AMR][1000 genomes]
rs73862453	1.00[AMR][1000 genomes]
rs7640817	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591148	chr3:99774720-99905803	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99795800-99866600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:99818000-99836600	Weak transcription	Primary B cells from cord blood	blood
3	chr3:99821600-99826200	Enhancers	HepG2	liver
4	chr3:99821800-99826400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:99821800-99826400	Enhancers	Fetal Lung	lung
6	chr3:99821800-99826400	Enhancers	Fetal Stomach	stomach
7	chr3:99821800-99826400	Enhancers	Osteobl	bone
8	chr3:99821800-99826800	Enhancers	Fetal Kidney	kidney
9	chr3:99821800-99827800	Enhancers	Stomach Smooth Muscle	stomach
10	chr3:99822200-99826400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:99822400-99826400	Enhancers	NHLF	lung
12	chr3:99822400-99827000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:99822600-99826400	Enhancers	Stomach Mucosa	stomach
14	chr3:99822600-99827400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr3:99822600-99828000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:99822800-99826200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:99822800-99827600	Enhancers	Rectal Smooth Muscle	rectum
18	chr3:99822800-99827800	Enhancers	Fetal Intestine Large	intestine
19	chr3:99822800-99828000	Enhancers	Fetal Intestine Small	intestine
20	chr3:99823000-99826600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:99823000-99828000	Enhancers	Colon Smooth Muscle	Colon
22	chr3:99823200-99826000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:99823200-99827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:99823400-99826000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr3:99823400-99828000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr3:99823600-99826800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:99823600-99827400	Weak transcription	Gastric	stomach
28	chr3:99823600-99837200	Weak transcription	Pancreas	Pancrea
29	chr3:99823800-99826000	Weak transcription	Liver	Liver
30	chr3:99823800-99826200	Enhancers	Hela-S3	cervix
31	chr3:99823800-99826400	Enhancers	A549	lung
32	chr3:99823800-99826600	Enhancers	NHEK	skin
33	chr3:99823800-99827400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr3:99824000-99825800	Weak transcription	HUVEC	blood vessel
35	chr3:99824200-99826400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr3:99824200-99826400	Enhancers	HMEC	breast
37	chr3:99824200-99826600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:99824400-99825800	Enhancers	Right Ventricle	heart
39	chr3:99824400-99826000	Enhancers	Ovary	ovary
40	chr3:99824400-99826400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr3:99824400-99826400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr3:99824400-99827800	Enhancers	Fetal Muscle Leg	muscle
43	chr3:99824600-99825800	Enhancers	NHDF-Ad	bronchial
44	chr3:99825000-99826000	Enhancers	Psoas Muscle	Psoas
45	chr3:99825000-99826200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr3:99825000-99826400	Enhancers	Adipose Nuclei	Adipose
47	chr3:99825200-99826200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:99825200-99827600	Weak transcription	HSMMtube	muscle
49	chr3:99825200-99835000	Weak transcription	K562	blood
50	chr3:99825200-99840600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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