Variant report

Variant	rs4671816
Chromosome Location	chr2:54315932-54315933
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	chr2:54310601..54313895-chr2:54315141..54317483,3	MCF-7	breast:
2	chr2:54314046..54316494-chr2:54341212..54344177,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs805339	1.00[AMR][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	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1010175	chr2:54292951-54343466	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
2	chr2:54289800-54317600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:54291200-54342000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:54302800-54317800	Weak transcription	Left Ventricle	heart
5	chr2:54305400-54321600	Weak transcription	Lung	lung
6	chr2:54307400-54319400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:54309000-54317600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:54311000-54317800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:54311000-54317800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:54311000-54324200	Weak transcription	HSMMtube	muscle
11	chr2:54311800-54317600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:54314800-54316200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:54315000-54316000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:54315000-54316000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:54315000-54316000	Enhancers	Adipose Nuclei	Adipose
16	chr2:54315000-54316000	Enhancers	HMEC	breast
17	chr2:54315000-54316800	Enhancers	HepG2	liver
18	chr2:54315000-54317000	Enhancers	Fetal Intestine Large	intestine
19	chr2:54315000-54317000	Enhancers	Fetal Intestine Small	intestine
20	chr2:54315200-54316000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:54315200-54316000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:54315200-54316000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:54315200-54316000	Enhancers	NH-A	brain
24	chr2:54315200-54316200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:54315200-54316200	Enhancers	Stomach Mucosa	stomach
26	chr2:54315200-54316200	Enhancers	K562	blood
27	chr2:54315400-54316200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:54315600-54316000	Flanking Active TSS	NHEK	skin
29	chr2:54315600-54317800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:54315600-54319800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:54315600-54322600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:54315800-54316200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:54315800-54317800	Weak transcription	Pancreas	Pancrea
34	chr2:54315800-54319400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:54315800-54319600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:54315800-54319800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:54315800-54319800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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