Variant report

Variant	rs10267075
Chromosome Location	chr7:6475755-6475756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6474092..6477009-chr7:6483600..6487126,3	K562	blood:
2	chr7:6475431..6480249-chr7:6480514..6484908,6	MCF-7	breast:
3	chr7:6036905..6037494-chr7:6475471..6476167,2	MCF-7	breast:
4	chr7:6474528..6479669-chr7:6479864..6485085,5	MCF-7	breast:
5	chr7:6475563..6476129-chr8:50550159..50551004,2	MCF-7	breast:
6	chr7:6421913..6424520-chr7:6475642..6477904,2	MCF-7	breast:
7	chr7:6475514..6477086-chr7:6478544..6480685,2	K562	blood:
8	chr7:6475500..6479513-chr7:6485529..6489482,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10224776	1.00[AMR][1000 genomes]
rs10230345	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232409	1.00[AMR][1000 genomes]
rs10237734	1.00[AMR][1000 genomes]
rs10239689	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10265923	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10273790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282329	1.00[AMR][1000 genomes]
rs28624716	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35767264	1.00[AMR][1000 genomes]
rs36099272	1.00[AMR][1000 genomes]
rs57649911	1.00[AMR][1000 genomes]
rs58107700	1.00[AMR][1000 genomes]
rs73344970	1.00[AMR][1000 genomes]
rs73344979	1.00[AMR][1000 genomes]
rs73346969	1.00[AMR][1000 genomes]
rs73346993	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv606000	chr7:6446027-6477002	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
2	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
3	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
4	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:6459600-6478400	Weak transcription	Psoas Muscle	Psoas
6	chr7:6461800-6478000	Weak transcription	HUVEC	blood vessel
7	chr7:6462600-6476200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:6463000-6476000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:6464600-6481600	Weak transcription	Stomach Mucosa	stomach
10	chr7:6465000-6477200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:6465000-6486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:6465600-6478200	Weak transcription	Right Ventricle	heart
13	chr7:6465800-6486400	Weak transcription	Colonic Mucosa	Colon
14	chr7:6466000-6481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:6466000-6486400	Weak transcription	Aorta	Aorta
16	chr7:6467600-6481400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:6469200-6478000	Weak transcription	HSMMtube	muscle
18	chr7:6470800-6476400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:6472000-6481400	Weak transcription	Ovary	ovary
20	chr7:6472800-6481600	Weak transcription	Fetal Lung	lung
21	chr7:6473000-6476200	Strong transcription	HepG2	liver
22	chr7:6473200-6476200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:6473400-6477200	Genic enhancers	Hela-S3	cervix
24	chr7:6474200-6478200	Weak transcription	Left Ventricle	heart
25	chr7:6474200-6481600	Weak transcription	Fetal Brain Male	brain
26	chr7:6474400-6475800	Enhancers	Adipose Nuclei	Adipose
27	chr7:6474400-6478200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:6474400-6481400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:6474400-6481400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:6474400-6481400	Weak transcription	Gastric	stomach
31	chr7:6474400-6481600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:6474600-6476400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:6474600-6476600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr7:6474600-6481400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:6474600-6481400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:6474600-6481400	Weak transcription	Lung	lung
37	chr7:6474600-6481400	Weak transcription	HMEC	breast
38	chr7:6474600-6481400	Weak transcription	NH-A	brain
39	chr7:6474600-6481600	Weak transcription	Spleen	Spleen
40	chr7:6474800-6475800	Weak transcription	Thymus	Thymus
41	chr7:6474800-6475800	Weak transcription	NHEK	skin
42	chr7:6474800-6476400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:6474800-6476600	Enhancers	Fetal Muscle Leg	muscle
44	chr7:6474800-6476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:6474800-6478400	Weak transcription	Fetal Brain Female	brain
46	chr7:6474800-6479000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:6474800-6479000	Weak transcription	Fetal Intestine Large	intestine
48	chr7:6474800-6481400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:6474800-6481400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:6474800-6481400	Weak transcription	NHLF	lung

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