Variant report

Variant	rs78227127
Chromosome Location	chr7:150950140-150950141
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	MAZ	chr7:150948322-150950503	IMR90	lung:	n/a	n/a
2	YY1	chr7:150949585-150950419	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr7:150950096-150950294	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr7:150948694-150950541	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr7:150948097-150950685	H1-neurons	neurons:	n/a	chr7:150948895-150948905 chr7:150950263-150950276 chr7:150949138-150949151
6	CEBPB	chr7:150950129-150950315	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr7:150950091-150950413	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr7:150950036-150950434	H1-hESC	embryonic stem cell:	n/a	chr7:150950262-150950270 chr7:150950330-150950343 chr7:150950263-150950276
9	ZNF143	chr7:150950082-150950430	H1-hESC	embryonic stem cell:	n/a	n/a
10	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
11	POLR2A	chr7:150948484-150950723	H1-neurons	neurons:	n/a	n/a
12	TEAD4	chr7:150950065-150950373	H1-hESC	embryonic stem cell:	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	chr7:150948703..150950863-chr7:150952432..150955323,2	K562	blood:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000033100	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150948600-150950200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr7:150949200-150950200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:150949200-150950200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:150949200-150950200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr7:150949200-150950200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:150949200-150950200	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr7:150949200-150950200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr7:150949200-150950200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
9	chr7:150949200-150950200	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr7:150949200-150950200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
11	chr7:150949200-150950400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:150949200-150950400	Flanking Active TSS	Fetal Brain Male	brain
13	chr7:150949200-150950400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr7:150949200-150950600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:150949200-150950600	Flanking Active TSS	Fetal Brain Female	brain
16	chr7:150949200-150950600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr7:150949400-150950200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:150949400-150950200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr7:150949400-150950200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:150949400-150950200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr7:150949400-150950200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:150949400-150950200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:150949400-150950200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr7:150949400-150950600	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr7:150949600-150950200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr7:150949600-150950200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr7:150949600-150950200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:150949600-150950200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:150949600-150950200	Flanking Active TSS	Fetal Lung	lung
30	chr7:150949600-150950200	Flanking Active TSS	NHDF-Ad	bronchial
31	chr7:150949600-150950200	Flanking Active TSS	NHLF	lung
32	chr7:150949600-150950400	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr7:150949600-150950400	Bivalent Enhancer	Fetal Thymus	thymus
34	chr7:150949600-150950600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:150949600-150950600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr7:150949800-150950200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
37	chr7:150949800-150950200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr7:150949800-150950200	Flanking Active TSS	Fetal Kidney	kidney
39	chr7:150949800-150950400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr7:150949800-150950600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:150949800-150950600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
42	chr7:150949800-150950600	Enhancers	Esophagus	oesophagus
43	chr7:150949800-150950600	Bivalent Enhancer	Placenta	Placenta
44	chr7:150949800-150950600	Active TSS	Lung	lung
45	chr7:150949800-150950600	Enhancers	Pancreas	Pancrea
46	chr7:150949800-150950600	Enhancers	Spleen	Spleen
47	chr7:150950000-150950200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr7:150950000-150950200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr7:150950000-150950200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr7:150950000-150950200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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