Variant report

Variant	rs62449641
Chromosome Location	chr7:27790434-27790435
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27787733..27790023-chr7:27790214..27791778,2	MCF-7	breast:
2	chr7:27779754..27782008-chr7:27790411..27792319,2	MCF-7	breast:
3	chr7:27786993..27792954-chr7:27793164..27797918,6	K562	blood:
4	chr7:27783427..27786063-chr7:27789814..27792025,2	MCF-7	breast:
5	chr7:27788924..27791824-chr7:27799682..27802351,2	K562	blood:

Variant related genes	Relation type
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction

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

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

rs_ID	r²[population]
rs10281008	0.83[EUR][1000 genomes]
rs10486556	0.86[EUR][1000 genomes]
rs10951178	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951180	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951181	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11761430	0.85[EUR][1000 genomes]
rs11761467	0.85[EUR][1000 genomes]
rs11763610	0.90[EUR][1000 genomes]
rs11763861	0.87[EUR][1000 genomes]
rs11765837	0.87[EUR][1000 genomes]
rs11768570	0.84[EUR][1000 genomes]
rs11769157	0.87[EUR][1000 genomes]
rs17155691	0.87[EUR][1000 genomes]
rs17155744	0.90[EUR][1000 genomes]
rs17155797	0.90[EUR][1000 genomes]
rs17155802	0.87[EUR][1000 genomes]
rs17155863	0.85[EUR][1000 genomes]
rs17611272	0.86[EUR][1000 genomes]
rs17684444	0.86[EUR][1000 genomes]
rs17692264	0.85[EUR][1000 genomes]
rs2237344	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2285929	0.83[EUR][1000 genomes]
rs56172733	0.87[EUR][1000 genomes]
rs62449628	0.90[EUR][1000 genomes]
rs62449630	0.90[EUR][1000 genomes]
rs62451066	0.87[EUR][1000 genomes]
rs62451068	0.85[EUR][1000 genomes]
rs62451069	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62451070	0.85[EUR][1000 genomes]
rs62451071	0.83[EUR][1000 genomes]
rs62454809	0.87[EUR][1000 genomes]
rs6462058	0.82[ASN][1000 genomes]
rs70977004	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73075305	0.85[EUR][1000 genomes]
rs73075333	0.85[EUR][1000 genomes]
rs73078729	0.86[EUR][1000 genomes]
rs73078746	0.83[EUR][1000 genomes]
rs73078762	0.90[EUR][1000 genomes]
rs739900	0.83[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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:27780800-27815200	Weak transcription	Gastric	stomach
5	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
7	chr7:27781200-27791800	Weak transcription	Right Ventricle	heart
8	chr7:27781200-27792000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:27781400-27799600	Weak transcription	Fetal Stomach	stomach
10	chr7:27781400-27803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:27781400-27812800	Weak transcription	Brain Germinal Matrix	brain
12	chr7:27784800-27799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:27784800-27801000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:27784800-27834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:27785000-27793200	Weak transcription	Fetal Heart	heart
17	chr7:27785000-27805600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:27785000-27806200	Weak transcription	Spleen	Spleen
19	chr7:27785000-27825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:27785200-27791000	Weak transcription	Fetal Kidney	kidney
21	chr7:27785200-27809800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:27787000-27804200	Weak transcription	Fetal Intestine Small	intestine
23	chr7:27787400-27799200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:27787600-27793600	Weak transcription	Stomach Mucosa	stomach
25	chr7:27787600-27805600	Weak transcription	Pancreas	Pancrea
26	chr7:27787600-27825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:27787800-27791600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:27787800-27793400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:27787800-27793800	Strong transcription	Primary B cells from cord blood	blood
30	chr7:27787800-27826600	Weak transcription	Small Intestine	intestine
31	chr7:27788000-27791000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:27788000-27791400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:27788000-27791800	Strong transcription	NHDF-Ad	bronchial
34	chr7:27788000-27792600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:27788000-27792600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:27788000-27792800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:27788000-27792800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:27788200-27790600	Strong transcription	NH-A	brain
39	chr7:27788200-27791000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:27788200-27791000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:27788200-27791600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:27788200-27791800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr7:27788200-27792000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:27788200-27792200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:27788200-27792200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:27788200-27792200	Strong transcription	Adipose Nuclei	Adipose
47	chr7:27788200-27792200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr7:27788200-27792200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr7:27788200-27792400	Strong transcription	HepG2	liver
50	chr7:27788200-27792600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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