Variant report

Variant	rs1972754
Chromosome Location	chr7:150824735-150824736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150824353-150825108	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150823153..150825845-chr7:150864127..150866768,5	MCF-7	breast:
2	chr7:150818782..150822666-chr7:150823705..150827002,4	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000133612	Chromatin interaction
ENSG00000164900	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2288650	0.91[ASN][1000 genomes]
rs2303946	1.00[ASN][1000 genomes]
rs3815979	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4440544	0.85[AMR][1000 genomes]
rs4725997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4725998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4726004	0.87[AMR][1000 genomes]
rs57324149	0.92[ASN][1000 genomes]
rs57978000	0.87[AMR][1000 genomes]
rs58678260	0.85[AMR][1000 genomes]
rs60243412	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6970983	0.91[ASN][1000 genomes]
rs6979622	0.96[ASN][1000 genomes]
rs72617353	0.85[AMR][1000 genomes]
rs72617359	1.00[AMR][1000 genomes]
rs72617360	0.87[AMR][1000 genomes]
rs72617361	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72617362	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
9	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
10	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
13	nsv609025	chr7:150811765-150825087	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv527369	chr7:150822192-150825087	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv523930	chr7:150822192-150830015	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv528732	chr7:150822192-150832913	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150812400-150829600	Weak transcription	Small Intestine	intestine
2	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:150813000-150840400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:150814000-150828600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:150814000-150842600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:150814200-150839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:150814600-150825000	Weak transcription	Thymus	Thymus
9	chr7:150814800-150825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:150814800-150839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:150815600-150833600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:150815600-150843400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:150816200-150844000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:150818400-150826600	Weak transcription	HSMMtube	muscle
15	chr7:150819400-150827600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:150820400-150842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:150821400-150825000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:150821400-150825600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:150821600-150825400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:150821600-150833600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:150822000-150825000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:150822400-150825600	Weak transcription	Brain Angular Gyrus	brain
23	chr7:150822400-150825800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:150822400-150827200	Weak transcription	Dnd41	blood
25	chr7:150822600-150825000	Weak transcription	Brain Substantia Nigra	brain
26	chr7:150822600-150826000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:150822600-150827000	Weak transcription	HUVEC	blood vessel
28	chr7:150822600-150828000	Weak transcription	HSMM	muscle
29	chr7:150822800-150824800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:150822800-150824800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:150822800-150825000	Weak transcription	HMEC	breast
32	chr7:150822800-150827000	Weak transcription	Fetal Kidney	kidney
33	chr7:150822800-150827200	Weak transcription	A549	lung
34	chr7:150822800-150827200	Weak transcription	GM12878-XiMat	blood
35	chr7:150822800-150829600	Weak transcription	Primary T cells from cord blood	blood
36	chr7:150823000-150825000	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:150823000-150825200	Weak transcription	Osteobl	bone
38	chr7:150823000-150825600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:150823000-150826600	Weak transcription	Hela-S3	cervix
40	chr7:150823000-150829000	Weak transcription	NHDF-Ad	bronchial
41	chr7:150823200-150825000	Weak transcription	Pancreas	Pancrea
42	chr7:150823200-150825200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:150823200-150839600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:150823400-150824800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:150823400-150825000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:150823400-150825000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:150823400-150825400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:150823400-150826600	Weak transcription	Aorta	Aorta
49	chr7:150823400-150827000	Weak transcription	NH-A	brain
50	chr7:150823400-150831400	Weak transcription	Right Atrium	heart

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