Variant report

Variant	rs10249042
Chromosome Location	chr7:120495945-120495946
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120495769..120499665-chr7:120588624..120592417,7	MCF-7	breast:
2	chr7:120489201..120491293-chr7:120493630..120496553,2	MCF-7	breast:
3	chr7:120494775..120497431-chr7:120590834..120592743,2	K562	blood:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10156133	0.85[AFR][1000 genomes]
rs10224694	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231429	0.85[AFR][1000 genomes]
rs10239339	0.80[AFR][1000 genomes]
rs10241872	0.95[AFR][1000 genomes]
rs10243869	0.85[AFR][1000 genomes]
rs10256185	0.80[AFR][1000 genomes]
rs10260155	0.85[AFR][1000 genomes]
rs10277685	0.80[AFR][1000 genomes]
rs12538483	0.80[AFR][1000 genomes]
rs12539312	0.80[AFR][1000 genomes]
rs12540028	0.80[AFR][1000 genomes]
rs28545438	0.90[AFR][1000 genomes]
rs28676720	0.82[AFR][1000 genomes]
rs28696320	0.80[AFR][1000 genomes]
rs6946429	0.80[AFR][1000 genomes]
rs6970044	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120474000-120496400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:120474600-120496600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:120477200-120496200	Weak transcription	Aorta	Aorta
4	chr7:120482600-120496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:120482800-120496400	Weak transcription	Liver	Liver
6	chr7:120482800-120496400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:120482800-120496600	Weak transcription	Stomach Mucosa	stomach
8	chr7:120483400-120496200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:120483400-120496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:120483600-120496600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:120485200-120496200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:120485200-120496200	Weak transcription	Fetal Stomach	stomach
13	chr7:120485200-120496600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:120485200-120496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:120485400-120496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:120485400-120496400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:120488200-120496200	Weak transcription	Fetal Intestine Small	intestine
18	chr7:120488200-120496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:120488200-120496600	Weak transcription	Colonic Mucosa	Colon
20	chr7:120488400-120496000	Weak transcription	Fetal Kidney	kidney
21	chr7:120488400-120496200	Weak transcription	Right Ventricle	heart
22	chr7:120489200-120496200	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:120490600-120496400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:120490600-120496800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr7:120492800-120496200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:120492800-120496400	Weak transcription	Fetal Lung	lung
27	chr7:120492800-120496600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:120492800-120496600	Weak transcription	Gastric	stomach
29	chr7:120493000-120496200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:120493000-120496200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:120493000-120496400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:120494400-120498200	Active TSS	GM12878-XiMat	blood
33	chr7:120494600-120496400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:120494800-120496200	Enhancers	Fetal Heart	heart
35	chr7:120495200-120496000	Enhancers	Fetal Intestine Large	intestine
36	chr7:120495200-120496200	Active TSS	Fetal Muscle Leg	muscle
37	chr7:120495200-120496400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:120495200-120496600	Active TSS	Right Atrium	heart
39	chr7:120495400-120496200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:120495400-120496200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:120495400-120496400	Weak transcription	HUVEC	blood vessel
42	chr7:120495400-120496600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:120495600-120496400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr7:120495800-120496200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:120495800-120496600	Active TSS	Fetal Muscle Trunk	muscle
46	chr7:120495800-120498600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:120495800-120498600	Active TSS	Left Ventricle	heart

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