Variant report

Variant	rs6961668
Chromosome Location	chr7:104677739-104677740
allele	A/C
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	CEBPB	chr7:104677683-104678057	K562	blood:	n/a	chr7:104677865-104677876
2	CEBPB	chr7:104677718-104678163	MCF-7	breast:	n/a	chr7:104677865-104677876
3	CEBPB	chr7:104677716-104678024	K562	blood:	n/a	chr7:104677865-104677876
4	CEBPB	chr7:104677725-104678032	IMR90	lung:	n/a	chr7:104677865-104677876

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104675440..104678046-chr7:104679888..104682253,3	MCF-7	breast:
2	chr7:104673376..104675042-chr7:104676149..104678178,2	K562	blood:

Variant related genes	Relation type
KMT2E	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10244764	0.82[AFR][1000 genomes]
rs10245676	0.82[AFR][1000 genomes]
rs10249965	0.87[AFR][1000 genomes]
rs10274607	0.87[AFR][1000 genomes]
rs10279486	0.88[AFR][1000 genomes]
rs10279602	0.88[AFR][1000 genomes]
rs12534140	0.80[AFR][1000 genomes]
rs3735377	0.86[AFR][1000 genomes]
rs4730065	0.84[AFR][1000 genomes]
rs4730067	0.85[AFR][1000 genomes]
rs6972229	0.81[AFR][1000 genomes]
rs875567	0.88[AFR][1000 genomes]
rs875568	0.82[AFR][1000 genomes]
rs960437	0.87[AFR][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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104656600-104681800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:104658600-104681200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:104658800-104681800	Weak transcription	Thymus	Thymus
5	chr7:104659800-104681200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:104661800-104696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:104663200-104679400	Weak transcription	Fetal Brain Female	brain
8	chr7:104664400-104681200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:104665200-104679200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:104665600-104681600	Weak transcription	NH-A	brain
11	chr7:104665600-104682200	Weak transcription	HMEC	breast
12	chr7:104665600-104682200	Weak transcription	HSMMtube	muscle
13	chr7:104666400-104679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:104666400-104681000	Weak transcription	NHEK	skin
15	chr7:104666400-104681200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:104666400-104681400	Weak transcription	Colonic Mucosa	Colon
17	chr7:104666800-104681600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:104667000-104681000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:104667000-104681200	Weak transcription	HepG2	liver
20	chr7:104667400-104681000	Weak transcription	Hela-S3	cervix
21	chr7:104667800-104679400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:104668200-104679400	Weak transcription	Fetal Lung	lung
23	chr7:104668200-104685000	Weak transcription	HUVEC	blood vessel
24	chr7:104669200-104679400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:104669400-104677800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:104669600-104685000	Weak transcription	Esophagus	oesophagus
27	chr7:104670400-104684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:104670400-104685000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:104671000-104678600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:104671200-104679400	Weak transcription	Fetal Kidney	kidney
31	chr7:104671600-104680800	Weak transcription	Fetal Heart	heart
32	chr7:104671800-104681800	Weak transcription	Pancreas	Pancrea
33	chr7:104671800-104685000	Weak transcription	Aorta	Aorta
34	chr7:104672800-104677800	Weak transcription	Placenta	Placenta
35	chr7:104673000-104685000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:104673200-104681200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:104673600-104678000	Weak transcription	A549	lung
38	chr7:104674600-104681200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:104674800-104678000	Weak transcription	Dnd41	blood
40	chr7:104674800-104678000	Weak transcription	GM12878-XiMat	blood
41	chr7:104674800-104679200	Weak transcription	Brain Substantia Nigra	brain
42	chr7:104674800-104679400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:104674800-104679400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:104674800-104681200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:104674800-104681200	Weak transcription	Osteobl	bone
46	chr7:104674800-104685000	Weak transcription	Right Ventricle	heart
47	chr7:104675000-104677800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:104675000-104677800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:104675000-104677800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:104675000-104677800	Weak transcription	Fetal Intestine Small	intestine

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