Variant report

Variant	rs7522198
Chromosome Location	chr1:215748189-215748190
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	chr1:215739388..215743068-chr1:215745972..215749293,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136636	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1027820	1.00[AMR][1000 genomes]
rs1557172	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs1819740	0.84[ASW][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2102370	1.00[AMR][1000 genomes]
rs2257059	1.00[CHD][hapmap]
rs3767258	0.86[AFR][1000 genomes]
rs57397989	0.91[AFR][1000 genomes]
rs58542168	0.88[AFR][1000 genomes]
rs58594611	0.88[AFR][1000 genomes]
rs58759277	0.84[AFR][1000 genomes]
rs59417960	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59635576	0.91[AFR][1000 genomes]
rs60533889	0.91[AFR][1000 genomes]
rs61346484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6540901	0.84[ASW][hapmap];1.00[YRI][hapmap]
rs6669126	1.00[AMR][1000 genomes]
rs6669520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673234	1.00[AMR][1000 genomes]
rs6674311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6676725	0.84[ASW][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6682584	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684615	1.00[AMR][1000 genomes]
rs6684799	1.00[AMR][1000 genomes]
rs6685149	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6685832	1.00[AMR][1000 genomes]
rs6689680	0.84[ASW][hapmap];0.83[LWK][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs6697600	1.00[AMR][1000 genomes]
rs6700397	0.86[AFR][1000 genomes]
rs73083421	0.82[AFR][1000 genomes]
rs73083429	0.82[AFR][1000 genomes]
rs73083432	1.00[AMR][1000 genomes]
rs73083437	0.86[AFR][1000 genomes]
rs73083461	0.88[AFR][1000 genomes]
rs73083470	0.88[AFR][1000 genomes]
rs73085404	0.88[AFR][1000 genomes]
rs73085410	0.86[AFR][1000 genomes]
rs73085423	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085441	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085455	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73087423	0.93[AFR][1000 genomes]
rs7511859	1.00[AMR][1000 genomes]
rs7522720	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531580	0.84[ASW][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7545425	1.00[YRI][hapmap];1.00[AFR][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	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741600-215749400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:215741800-215749400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:215741800-215749400	Weak transcription	Lung	lung
4	chr1:215741800-215786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
6	chr1:215742000-215749400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:215742000-215756000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:215742000-215786400	Weak transcription	Thymus	Thymus
9	chr1:215742200-215749600	Weak transcription	Fetal Thymus	thymus
10	chr1:215742200-215767600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:215742200-215786400	Weak transcription	Primary T cells from cord blood	blood
12	chr1:215742400-215749400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:215742400-215752600	Weak transcription	HSMMtube	muscle
14	chr1:215742400-215757800	Weak transcription	Dnd41	blood
15	chr1:215742600-215748200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:215742600-215749600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:215742800-215748400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:215742800-215749400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:215742800-215749400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:215742800-215749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:215742800-215749400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:215742800-215749400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:215742800-215749400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:215742800-215749400	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:215742800-215751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:215742800-215754600	Weak transcription	Spleen	Spleen
27	chr1:215742800-215756600	Weak transcription	Primary B cells from cord blood	blood
28	chr1:215743000-215749400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:215743000-215749400	Weak transcription	Placenta	Placenta
30	chr1:215743000-215772400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:215743200-215748400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:215743200-215749400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:215743200-215785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:215743400-215748200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:215743600-215748200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:215743600-215748400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:215743600-215749400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:215743600-215755400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:215743800-215756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:215744000-215749400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:215744000-215749400	Weak transcription	Brain Germinal Matrix	brain
42	chr1:215744200-215749400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:215744200-215749400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:215744200-215750400	Weak transcription	Fetal Kidney	kidney
45	chr1:215744200-215767400	Weak transcription	Fetal Brain Male	brain
46	chr1:215744400-215748600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:215744400-215749600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:215744400-215750000	Weak transcription	NH-A	brain
49	chr1:215744400-215754800	Weak transcription	Fetal Brain Female	brain
50	chr1:215744400-215767600	Weak transcription	NHLF	lung

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