Variant report

Variant	rs41298567
Chromosome Location	chr4:129194258-129194259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129191253..129196346-chr4:129207111..129210585,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs41298545	0.90[AFR][1000 genomes]
rs6845290	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7657129	1.00[EUR][1000 genomes]
rs7698123	1.00[EUR][1000 genomes]
rs9685697	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129173800-129207400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129184600-129206200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:129187800-129206400	Weak transcription	Ovary	ovary
4	chr4:129187800-129206600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:129187800-129207200	Weak transcription	Aorta	Aorta
6	chr4:129188200-129195200	Weak transcription	Fetal Intestine Small	intestine
7	chr4:129188600-129205800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:129188800-129203600	Weak transcription	Stomach Mucosa	stomach
9	chr4:129188800-129206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:129189000-129200800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:129189000-129205600	Weak transcription	Fetal Lung	lung
12	chr4:129189400-129198800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:129189400-129206000	Weak transcription	Fetal Stomach	stomach
14	chr4:129189400-129207200	Weak transcription	Thymus	Thymus
15	chr4:129189600-129200800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:129189800-129195400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:129189800-129205400	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:129190000-129195200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:129190000-129195200	Strong transcription	NHDF-Ad	bronchial
20	chr4:129190000-129195400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:129190000-129197000	Weak transcription	Pancreas	Pancrea
22	chr4:129190000-129206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:129190200-129195200	Strong transcription	Osteobl	bone
24	chr4:129190200-129195400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:129190200-129195600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:129190200-129200400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:129190400-129201000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:129190600-129195400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:129190600-129195400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:129190600-129195400	Strong transcription	HMEC	breast
31	chr4:129190600-129198000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:129190600-129205400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:129190600-129206200	Weak transcription	Psoas Muscle	Psoas
34	chr4:129190600-129206600	Weak transcription	Brain Anterior Caudate	brain
35	chr4:129190800-129194400	Weak transcription	Brain Substantia Nigra	brain
36	chr4:129190800-129194600	Strong transcription	HUVEC	blood vessel
37	chr4:129190800-129194600	Strong transcription	NH-A	brain
38	chr4:129190800-129195400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:129190800-129195800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:129190800-129195800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:129191000-129194600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:129191000-129194600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr4:129191000-129194600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr4:129191000-129194800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:129191000-129195200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:129191000-129195800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:129191000-129195800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:129191000-129206200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:129191200-129194600	Strong transcription	Fetal Thymus	thymus
50	chr4:129191200-129194600	Strong transcription	GM12878-XiMat	blood

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