Variant report

Variant	rs7782931
Chromosome Location	chr7:39783800-39783801
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39772223..39775889-chr7:39780392..39783804,4	MCF-7	breast:
2	chr7:39619664..39620687-chr7:39782996..39783915,3	K562	blood:
3	chr7:39779586..39783810-chr7:39784294..39787112,4	K562	blood:
4	chr7:39662881..39664512-chr7:39782067..39783889,2	K562	blood:

Variant related genes	Relation type
ENSG00000006451	Chromatin interaction
ENSG00000188185	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10253933	0.83[EUR][1000 genomes]
rs10267545	0.83[EUR][1000 genomes]
rs11765970	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11773617	0.80[EUR][1000 genomes]
rs12668144	0.82[EUR][1000 genomes]
rs12701754	0.81[EUR][1000 genomes]
rs12701759	0.88[EUR][1000 genomes]
rs13244194	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34910913	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35314132	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35531871	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35774126	0.82[EUR][1000 genomes]
rs35943406	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3779200	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57581092	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58645680	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62453003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977082	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39774200-39786200	Weak transcription	Fetal Intestine Large	intestine
2	chr7:39774200-39788800	Weak transcription	HSMMtube	muscle
3	chr7:39774200-39790400	Weak transcription	Fetal Kidney	kidney
4	chr7:39774200-39793400	Weak transcription	Ovary	ovary
5	chr7:39774200-39807400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:39774400-39785200	Weak transcription	Brain Germinal Matrix	brain
7	chr7:39774400-39785600	Weak transcription	Brain Substantia Nigra	brain
8	chr7:39774400-39794000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:39774400-39797600	Weak transcription	Thymus	Thymus
10	chr7:39774600-39785600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:39774600-39786000	Weak transcription	Fetal Thymus	thymus
12	chr7:39775200-39784000	Weak transcription	Primary B cells from cord blood	blood
13	chr7:39775400-39785600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:39775400-39785600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:39775600-39785600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:39775600-39788600	Weak transcription	NHLF	lung
17	chr7:39775800-39784200	Weak transcription	Esophagus	oesophagus
18	chr7:39775800-39785400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:39775800-39785400	Weak transcription	Fetal Brain Female	brain
20	chr7:39775800-39785600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:39775800-39785600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:39775800-39785600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:39775800-39786200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:39775800-39786400	Weak transcription	Spleen	Spleen
25	chr7:39775800-39788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:39775800-39789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:39775800-39789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:39775800-39793400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:39775800-39796400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:39775800-39807000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr7:39775800-39811200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:39776000-39785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:39776000-39785600	Weak transcription	Osteobl	bone
34	chr7:39776000-39785800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:39776000-39785800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:39776000-39793800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:39776200-39784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:39776200-39793800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:39776200-39794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:39776400-39784400	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:39776400-39785600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr7:39776600-39820400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:39776800-39790000	Weak transcription	Dnd41	blood
44	chr7:39777400-39784600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:39777600-39784600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:39777600-39785600	Weak transcription	A549	lung
47	chr7:39781800-39785200	Strong transcription	Fetal Stomach	stomach
48	chr7:39781800-39793400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:39782000-39785000	Strong transcription	GM12878-XiMat	blood
50	chr7:39782000-39785600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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