Variant report

Variant	rs570241391
Chromosome Location	chr7:150949720-150949721
allele	G/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	MAZ	chr7:150948322-150950503	IMR90	lung:	n/a	n/a
2	NRF1	chr7:150948267-150949770	SK-N-SH	brain:	n/a	chr7:150949056-150949067 chr7:150949056-150949070
3	YY1	chr7:150949585-150950419	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:150948643-150949760	HUVEC	blood vessel:	n/a	n/a
5	SIN3A	chr7:150948414-150949797	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr7:150948694-150950541	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:150948681-150950054	SK-N-SH	brain:	n/a	n/a
8	REST	chr7:150948097-150950685	H1-neurons	neurons:	n/a	chr7:150948895-150948905 chr7:150950263-150950276 chr7:150949138-150949151
9	YY1	chr7:150948572-150949766	SK-N-SH	brain:	n/a	chr7:150949120-150949131 chr7:150949123-150949134 chr7:150949066-150949075 chr7:150949181-150949198 chr7:150949175-150949197
10	POLR2A	chr7:150948319-150949824	H1-neurons	neurons:	n/a	n/a
11	ZNF263	chr7:150948217-150950612	HEK293-T-REx	kidney:	n/a	chr7:150949847-150949856 chr7:150949142-150949151 chr7:150949143-150949164 chr7:150949756-150949765 chr7:150949850-150949859 chr7:150950227-150950236 chr7:150948709-150948718 chr7:150950567-150950576
12	POLR2A	chr7:150948484-150950723	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr7:150949021-150949723	U87	brain:	n/a	n/a
14	POLR2A	chr7:150949015-150949723	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150949363..150951350-chr7:150953823..150956264,2	K562	blood:
2	chr7:150928662..150932139-chr7:150946772..150952684,6	MCF-7	breast:
3	chr7:150705057..150707030-chr7:150948019..150950739,2	K562	blood:
4	chr7:150863343..150865061-chr7:150947610..150949922,2	MCF-7	breast:
5	chr7:150948703..150950863-chr7:150952432..150955323,2	K562	blood:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000033100	Chromatin interaction
ENSG00000164900	Chromatin interaction
ENSG00000164867	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
6	esv3341107	chr7:150949269-150951767	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150948400-150949800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:150948400-150949800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
3	chr7:150948400-150949800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:150948400-150950000	Active TSS	Aorta	Aorta
5	chr7:150948400-150950000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
6	chr7:150948600-150949800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:150948600-150949800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:150948600-150949800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:150948600-150949800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:150948600-150949800	Active TSS	Gastric	stomach
11	chr7:150948600-150949800	Active TSS	Ovary	ovary
12	chr7:150948600-150949800	Active TSS	Placenta Amnion	Placenta Amnion
13	chr7:150948600-150950000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr7:150948600-150950000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:150948600-150950200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr7:150948800-150949800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:150948800-150949800	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr7:150949000-150949800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:150949000-150950000	Transcr. at gene 5' and 3'	Right Atrium	heart
20	chr7:150949200-150949800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:150949200-150949800	Bivalent/Poised TSS	Liver	Liver
22	chr7:150949200-150949800	Active TSS	Fetal Kidney	kidney
23	chr7:150949200-150949800	Flanking Bivalent TSS/Enh	Placenta	Placenta
24	chr7:150949200-150949800	Flanking Active TSS	Pancreas	Pancrea
25	chr7:150949200-150949800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
26	chr7:150949200-150949800	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr7:150949200-150949800	Flanking Active TSS	HUVEC	blood vessel
28	chr7:150949200-150949800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr7:150949200-150950000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:150949200-150950000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:150949200-150950000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:150949200-150950000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:150949200-150950000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr7:150949200-150950000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
35	chr7:150949200-150950000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
36	chr7:150949200-150950000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:150949200-150950200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:150949200-150950200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:150949200-150950200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr7:150949200-150950200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:150949200-150950200	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr7:150949200-150950200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr7:150949200-150950200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
44	chr7:150949200-150950200	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr7:150949200-150950200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
46	chr7:150949200-150950400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:150949200-150950400	Flanking Active TSS	Fetal Brain Male	brain
48	chr7:150949200-150950400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr7:150949200-150950600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:150949200-150950600	Flanking Active TSS	Fetal Brain Female	brain

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