Variant report

Variant	rs41277152
Chromosome Location	chr1:213141484-213141485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213141379..213143091-chr1:213151749..213153627,2	K562	blood:
2	chr1:213140835..213141998-chr1:213168527..213169421,4	K562	blood:
3	chr1:213140541..213143101-chr1:213187498..213189193,2	MCF-7	breast:
4	chr1:212965435..212968040-chr1:213139784..213142502,2	K562	blood:
5	chr1:213123297..213125908-chr1:213140994..213143344,2	MCF-7	breast:
6	chr1:212838503..212839330-chr1:213140775..213141553,2	K562	blood:

Variant related genes	Relation type
ENSG00000237980	Chromatin interaction
ENSG00000174606	Chromatin interaction
ENSG00000143494	Chromatin interaction
ENSG00000203705	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72743911	1.00[ASN][1000 genomes]
rs72743920	1.00[ASN][1000 genomes]
rs72743925	1.00[ASN][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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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 lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv11434	chr1:213131581-213156027	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213125800-213145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
3	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
4	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
5	chr1:213129000-213141600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:213130000-213153800	Weak transcription	Thymus	Thymus
7	chr1:213131400-213153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:213133000-213146200	Weak transcription	Esophagus	oesophagus
9	chr1:213133200-213153400	Weak transcription	Lung	lung
10	chr1:213133400-213153800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:213133600-213161600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:213134600-213152200	Weak transcription	Right Atrium	heart
13	chr1:213135000-213144800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:213136600-213141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:213136800-213142200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:213137800-213154200	Strong transcription	Brain Germinal Matrix	brain
17	chr1:213138000-213144600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:213138800-213141600	Genic enhancers	GM12878-XiMat	blood
19	chr1:213139200-213141600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:213139200-213142000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:213139200-213142200	Genic enhancers	H1 Cell Line	embryonic stem cell
22	chr1:213139200-213143800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:213139600-213142000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:213140000-213142400	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:213140000-213144600	Weak transcription	Fetal Kidney	kidney
26	chr1:213140400-213142400	Enhancers	Fetal Thymus	thymus
27	chr1:213140600-213141600	Genic enhancers	HSMMtube	muscle
28	chr1:213140600-213142400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:213140600-213143600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:213140800-213141800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:213140800-213142000	Enhancers	Hela-S3	cervix
32	chr1:213140800-213142400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:213140800-213142400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:213140800-213142400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:213141000-213141600	Strong transcription	Fetal Brain Male	brain
36	chr1:213141000-213141600	Genic enhancers	HSMM	muscle
37	chr1:213141000-213141800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:213141000-213141800	Enhancers	A549	lung
39	chr1:213141000-213142000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:213141200-213141800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:213141200-213142000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:213141200-213142400	Enhancers	Psoas Muscle	Psoas
43	chr1:213141200-213145200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:213141400-213141600	Bivalent Enhancer	K562	blood
45	chr1:213141400-213141800	Bivalent Enhancer	NHDF-Ad	bronchial
46	chr1:213141400-213142400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:213141400-213142400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:213141400-213142800	Enhancers	Fetal Muscle Leg	muscle
49	chr1:213141400-213143800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:213141400-213154000	Strong transcription	H9 Cell Line	embryonic stem cell

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