Variant report

Variant	rs527671411
Chromosome Location	chr7:150814909-150814910
allele	A/G
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	chr7:150814548-150814976	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:8094111..8096395-chr7:150814186..150816873,2	MCF-7	breast:
2	chr7:150807803..150810009-chr7:150811928..150814974,4	MCF-7	breast:
3	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
4	chr7:150813337..150816221-chr7:150868567..150872033,3	K562	blood:

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000243350	Chromatin interaction
ENSG00000107485	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000164900	Chromatin interaction
ENSG00000197308	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv3438638	chr7:150814869-150817367	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
2	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
3	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
5	chr7:150811200-150816200	Weak transcription	NHDF-Ad	bronchial
6	chr7:150811600-150815200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:150811600-150815400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:150811600-150821200	Weak transcription	Fetal Kidney	kidney
9	chr7:150812400-150829600	Weak transcription	Small Intestine	intestine
10	chr7:150812600-150839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:150812800-150815200	Weak transcription	Ovary	ovary
12	chr7:150812800-150815200	Weak transcription	Osteobl	bone
13	chr7:150812800-150815400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:150812800-150815600	Weak transcription	Aorta	Aorta
15	chr7:150812800-150815800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:150812800-150816200	Flanking Active TSS	Dnd41	blood
17	chr7:150812800-150822400	Weak transcription	Psoas Muscle	Psoas
18	chr7:150813000-150815000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:150813000-150818800	Strong transcription	HepG2	liver
20	chr7:150813000-150821400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:150813000-150822400	Strong transcription	NHLF	lung
22	chr7:150813000-150840400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:150813200-150815000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:150813200-150815000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:150813200-150815200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:150813200-150815200	Weak transcription	Left Ventricle	heart
28	chr7:150813200-150815400	Weak transcription	HSMMtube	muscle
29	chr7:150813200-150815600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:150813200-150815600	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:150813200-150815800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:150813200-150816200	Weak transcription	HUVEC	blood vessel
33	chr7:150813200-150821000	Weak transcription	Fetal Brain Male	brain
34	chr7:150813200-150822200	Weak transcription	Right Atrium	heart
35	chr7:150813400-150815000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:150813400-150815200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:150813400-150815400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:150813400-150816000	Genic enhancers	Spleen	Spleen
39	chr7:150813400-150822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:150813600-150815000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:150813600-150815200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:150813600-150815200	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:150813600-150815200	Transcr. at gene 5' and 3'	NHEK	skin
44	chr7:150813600-150815600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:150813600-150816000	Weak transcription	HSMM	muscle
46	chr7:150813600-150819200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:150813600-150821200	Strong transcription	Fetal Stomach	stomach
48	chr7:150813600-150821400	Strong transcription	Right Ventricle	heart
49	chr7:150813600-150822200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:150813600-150822400	Strong transcription	Fetal Brain Female	brain

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