Variant report

Variant	rs10249402
Chromosome Location	chr7:150942140-150942141
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	CTCF	chr7:150942020-150942170	HEK293	kidney:	n/a	n/a
2	CTCF	chr7:150942140-150942290	GM12874	blood:	n/a	n/a
3	CTCF	chr7:150942000-150942150	NHEK	skin:	n/a	n/a
4	CTCF	chr7:150942020-150942170	HCT-116	colon:	n/a	n/a
5	CTCF	chr7:150942140-150942290	K562	blood:	n/a	n/a
6	SMC3	chr7:150940796-150943624	SK-N-SH	brain:	n/a	chr7:150941980-150941987 chr7:150941567-150941581 chr7:150941940-150941947
7	BACH1	chr7:150942108-150942642	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr7:150940291-150943350	SK-N-SH	brain:	n/a	chr7:150941938-150941951 chr7:150940479-150940497 chr7:150941560-150941581 chr7:150941941-150941954 chr7:150940585-150940598 chr7:150941920-150941929 chr7:150941977-150941986
9	CTCF	chr7:150942100-150942250	AG04449	skin:	n/a	n/a
10	CTCF	chr7:150942040-150942190	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr7:150942060-150942210	HPAF	blood vessel:	n/a	n/a
12	POLR2A	chr7:150941077-150942207	IMR90	lung:	n/a	n/a
13	CTCF	chr7:150941307-150943406	A549	lung:	n/a	chr7:150941938-150941951 chr7:150941560-150941581 chr7:150941941-150941954 chr7:150941920-150941929 chr7:150941977-150941986
14	CTCF	chr7:150942040-150942190	HCM	heart:	n/a	n/a
15	MAZ	chr7:150941113-150942163	IMR90	lung:	n/a	n/a
16	CTCF	chr7:150942000-150942150	HMEC	breast:	n/a	n/a
17	CTBP2	chr7:150942002-150943270	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr7:150942080-150942230	GM12870	blood:	n/a	n/a
19	CTCF	chr7:150942080-150942230	GM12868	blood:	n/a	n/a
20	CTCF	chr7:150942060-150942210	GM12865	blood:	n/a	n/a
21	CTCF	chr7:150941284-150942212	HCT-116	colon:	n/a	chr7:150941938-150941951 chr7:150941560-150941581 chr7:150941941-150941954 chr7:150941920-150941929 chr7:150941977-150941986
22	CTCF	chr7:150942120-150942270	GM12873	blood:	n/a	n/a
23	CTCF	chr7:150942120-150942270	RPTEC	kidney:	n/a	n/a
24	RAD21	chr7:150940770-150943041	SK-N-SH	brain:	n/a	chr7:150941937-150941950 chr7:150941591-150941603 chr7:150941563-150941582 chr7:150941940-150941954
25	CTCF	chr7:150942020-150942170	GM06990	blood:	n/a	n/a
26	CTCF	chr7:150942100-150942250	HA-sp	spinal cord:	n/a	n/a
27	CTCF	chr7:150942100-150942250	NHLF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150941689..150943266-chr7:150971664..150974365,2	K562	blood:
2	chr7:150923495..150927436-chr7:150940006..150942925,4	MCF-7	breast:
3	chr7:150938571..150942838-chr7:150950941..150954111,4	MCF-7	breast:
4	chr7:150865018..150866330-chr7:150941109..150942155,6	K562	blood:
5	chr7:150819780..150822617-chr7:150940406..150943194,3	MCF-7	breast:
6	chr7:150941406..150944514-chr7:150945051..150947075,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243018	TF binding region
SMARCD3	TF binding region
ENSG00000243018	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000033050	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10230222	1.00[AFR][1000 genomes]
rs28774985	1.00[AFR][1000 genomes]
rs61730149	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150931000-150944600	Weak transcription	Fetal Kidney	kidney
2	chr7:150931600-150944400	Weak transcription	Hela-S3	cervix
3	chr7:150936400-150942200	Weak transcription	HMEC	breast
4	chr7:150940000-150942200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:150940000-150942200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr7:150940000-150942400	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr7:150940000-150942800	Enhancers	Spleen	Spleen
8	chr7:150940200-150942200	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:150940200-150942200	Flanking Active TSS	Fetal Brain Female	brain
10	chr7:150940200-150942600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr7:150940200-150942600	Enhancers	Lung	lung
12	chr7:150940200-150943000	Enhancers	Adipose Nuclei	Adipose
13	chr7:150940200-150944800	Enhancers	Pancreas	Pancrea
14	chr7:150940200-150945400	Enhancers	K562	blood
15	chr7:150940400-150942200	Enhancers	Brain Angular Gyrus	brain
16	chr7:150940400-150942200	Bivalent Enhancer	Colonic Mucosa	Colon
17	chr7:150940400-150942400	Enhancers	Liver	Liver
18	chr7:150940400-150942600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:150940400-150944000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:150940600-150942200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:150940600-150942600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
22	chr7:150940800-150942200	Enhancers	Brain Substantia Nigra	brain
23	chr7:150940800-150942200	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr7:150940800-150942200	Enhancers	Left Ventricle	heart
25	chr7:150940800-150942400	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr7:150940800-150942800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr7:150940800-150942800	Weak transcription	Small Intestine	intestine
28	chr7:150940800-150944800	Bivalent Enhancer	Placenta	Placenta
29	chr7:150941000-150942200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr7:150941000-150942200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
31	chr7:150941000-150942200	Enhancers	GM12878-XiMat	blood
32	chr7:150941000-150942600	Enhancers	Gastric	stomach
33	chr7:150941000-150943200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr7:150941200-150942200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:150941200-150942200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:150941200-150942200	Enhancers	Ovary	ovary
37	chr7:150941200-150943200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr7:150941200-150943200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr7:150941200-150944800	Enhancers	NHDF-Ad	bronchial
40	chr7:150941400-150942200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:150941400-150942200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:150941400-150942200	Enhancers	Brain Hippocampus Middle	brain
43	chr7:150941400-150942200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
44	chr7:150941400-150943200	Weak transcription	HSMMtube	muscle
45	chr7:150941400-150944000	Bivalent Enhancer	Fetal Thymus	thymus
46	chr7:150941600-150942200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:150941600-150942200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:150941600-150942200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:150941600-150942200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr7:150941600-150942200	Enhancers	Pancreatic Islets	Pancreatic Islet

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