Variant report

Variant	rs35976699
Chromosome Location	chr1:213147400-213147401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213132666..213135129-chr1:213147114..213149278,2	MCF-7	breast:
2	chr1:213138245..213143253-chr1:213143565..213149265,6	K562	blood:
3	chr1:213146651..213149637-chr1:213158692..213161475,2	K562	blood:
4	chr1:213145484..213147806-chr1:213154081..213156986,2	K562	blood:
5	chr1:213143678..213151221-chr1:213151923..213156487,9	K562	blood:
6	chr1:213143411..213145037-chr1:213145067..213147758,2	K562	blood:

Variant related genes	Relation type
ENSG00000143494	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10127459	1.00[ASN][1000 genomes]
rs10746436	1.00[ASN][1000 genomes]
rs10779594	1.00[ASN][1000 genomes]
rs10864003	1.00[ASN][1000 genomes]
rs10864019	1.00[ASN][1000 genomes]
rs11120033	1.00[ASN][1000 genomes]
rs12036735	1.00[ASN][1000 genomes]
rs1284800	1.00[ASN][1000 genomes]
rs1284864	1.00[ASN][1000 genomes]
rs1615680	1.00[ASN][1000 genomes]
rs1692178	1.00[ASN][1000 genomes]
rs1692179	1.00[ASN][1000 genomes]
rs1692180	1.00[ASN][1000 genomes]
rs17020044	1.00[ASN][1000 genomes]
rs17020046	1.00[ASN][1000 genomes]
rs1770777	1.00[ASN][1000 genomes]
rs1770778	1.00[ASN][1000 genomes]
rs1874419	1.00[ASN][1000 genomes]
rs2047289	1.00[ASN][1000 genomes]
rs2047293	1.00[ASN][1000 genomes]
rs2359324	1.00[ASN][1000 genomes]
rs2644545	1.00[ASN][1000 genomes]
rs2792558	1.00[ASN][1000 genomes]
rs2792560	1.00[ASN][1000 genomes]
rs2792561	1.00[ASN][1000 genomes]
rs41315581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951649	1.00[ASN][1000 genomes]
rs59252582	1.00[ASN][1000 genomes]
rs6540768	1.00[ASN][1000 genomes]
rs6666362	1.00[ASN][1000 genomes]
rs6667161	1.00[ASN][1000 genomes]
rs6674933	1.00[ASN][1000 genomes]
rs6689134	1.00[ASN][1000 genomes]
rs6703612	1.00[ASN][1000 genomes]
rs73084274	0.92[EUR][1000 genomes]
rs7528119	1.00[ASN][1000 genomes]
rs7533932	1.00[ASN][1000 genomes]
rs7542906	1.00[ASN][1000 genomes]
rs963327	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
2	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
3	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
4	chr1:213130000-213153800	Weak transcription	Thymus	Thymus
5	chr1:213131400-213153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:213133200-213153400	Weak transcription	Lung	lung
7	chr1:213133400-213153800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:213133600-213161600	Weak transcription	Fetal Intestine Large	intestine
9	chr1:213134600-213152200	Weak transcription	Right Atrium	heart
10	chr1:213137800-213154200	Strong transcription	Brain Germinal Matrix	brain
11	chr1:213141400-213154000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr1:213141600-213154600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:213141800-213153400	Weak transcription	Brain Angular Gyrus	brain
14	chr1:213142000-213149000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:213142400-213147400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:213142400-213149400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:213142400-213152200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:213142400-213152200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:213142400-213154400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:213142800-213153400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:213143400-213148600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:213143600-213150000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:213143800-213149800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:213143800-213150000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:213143800-213153600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:213144000-213149200	Strong transcription	GM12878-XiMat	blood
27	chr1:213144400-213148400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:213144400-213150200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:213144600-213148400	Strong transcription	Fetal Kidney	kidney
30	chr1:213144600-213148600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:213144800-213150600	Strong transcription	Fetal Intestine Small	intestine
32	chr1:213144800-213152400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:213145200-213149600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr1:213145200-213150400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:213146000-213148400	Strong transcription	Fetal Brain Male	brain
36	chr1:213146000-213151400	Genic enhancers	HSMMtube	muscle
37	chr1:213146400-213153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:213146600-213153600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:213146600-213157200	Genic enhancers	Fetal Muscle Leg	muscle
40	chr1:213146800-213153600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:213147000-213152800	Weak transcription	HSMM	muscle
42	chr1:213147000-213154600	Weak transcription	Esophagus	oesophagus
43	chr1:213147200-213150200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:213147200-213151400	Weak transcription	Fetal Thymus	thymus
45	chr1:213147400-213148800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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