Variant report

Variant	rs55813292
Chromosome Location	chr7:150673722-150673723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150646673..150650094-chr7:150670937..150674779,4	MCF-7	breast:
2	chr7:150671828..150674694-chr7:150692153..150695076,2	MCF-7	breast:
3	chr7:150673570..150675827-chr7:150725848..150727398,2	MCF-7	breast:
4	chr7:150669264..150677850-chr7:150681612..150689209,13	MCF-7	breast:
5	chr7:150671778..150674151-chr7:150678272..150681379,4	MCF-7	breast:
6	chr7:150671887..150673971-chr7:150915991..150917932,2	K562	blood:

Variant related genes	Relation type
ENSG00000164867	Chromatin interaction
ENSG00000243433	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs41308993	0.82[EUR][1000 genomes]
rs41309017	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41309026	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73167625	0.82[EUR][1000 genomes]
rs73167627	0.82[EUR][1000 genomes]
rs73167633	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
13	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
15	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv609002	chr7:150667210-150678080	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
18	nsv8231	chr7:150671367-150681014	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150664600-150674000	Enhancers	Fetal Brain Male	brain
2	chr7:150670800-150674200	Bivalent Enhancer	Placenta	Placenta
3	chr7:150672200-150674000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr7:150672200-150674000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr7:150672200-150674200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:150672200-150674400	Weak transcription	Gastric	stomach
7	chr7:150672400-150673800	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr7:150672400-150673800	Flanking Active TSS	Fetal Heart	heart
9	chr7:150672400-150673800	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr7:150672400-150674200	Weak transcription	Ovary	ovary
11	chr7:150672400-150674600	Flanking Active TSS	Fetal Brain Female	brain
12	chr7:150672400-150674800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr7:150672400-150674800	Enhancers	Pancreas	Pancrea
14	chr7:150672400-150674800	Flanking Active TSS	K562	blood
15	chr7:150672600-150674000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:150672600-150674000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr7:150672600-150674000	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr7:150672600-150674000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr7:150672600-150674000	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr7:150672600-150674200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:150672600-150674200	Active TSS	Right Ventricle	heart
22	chr7:150672600-150674400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr7:150672600-150674400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:150672600-150674400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:150672600-150674400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:150672600-150674400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:150672600-150674800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr7:150672600-150674800	Bivalent Enhancer	Fetal Thymus	thymus
29	chr7:150672800-150673800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr7:150672800-150673800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr7:150672800-150673800	Enhancers	A549	lung
32	chr7:150672800-150674000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr7:150672800-150674000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr7:150672800-150674000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:150672800-150674000	Enhancers	Duodenum Mucosa	Duodenum
36	chr7:150672800-150674600	Bivalent Enhancer	HepG2	liver
37	chr7:150672800-150674800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr7:150672800-150675600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr7:150673000-150674000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:150673000-150674000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
41	chr7:150673000-150674000	Enhancers	Brain Anterior Caudate	brain
42	chr7:150673000-150674000	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:150673000-150674000	Enhancers	Brain Hippocampus Middle	brain
44	chr7:150673000-150674000	Bivalent Enhancer	Fetal Intestine Large	intestine
45	chr7:150673000-150674000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr7:150673000-150674200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
47	chr7:150673000-150674400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:150673000-150674600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr7:150673000-150674600	Bivalent Enhancer	Thymus	Thymus
50	chr7:150673000-150674800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood

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