Variant report

Variant	rs10282640
Chromosome Location	chr7:97753016-97753017
allele	C/T
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	REST	chr7:97752688-97753031	ECC-1	luminal epithelium:	n/a	chr7:97752830-97752839
2	REST	chr7:97752599-97753036	HL-60	blood:	n/a	chr7:97752830-97752839

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97738785..97741480-chr7:97751864..97754009,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TECPR1-2	chr7:97752600-97755814	NONHSAT122171

Variant related genes	Relation type
LMTK2	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10215577	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10216274	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10227681	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10231625	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10232153	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10241172	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10243993	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10256262	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10261777	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10270280	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10276472	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10282336	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12704966	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13221480	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13228463	0.83[ASN][1000 genomes]
rs13241860	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13247901	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17169317	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17169328	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17169330	0.82[ASN][1000 genomes]
rs28415802	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28681561	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34320281	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34353490	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs36081491	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3735252	0.91[ASN][1000 genomes]
rs6465655	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6958785	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6980318	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73404186	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7788997	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs951987	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97737200-97762400	Weak transcription	Aorta	Aorta
2	chr7:97737200-97764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:97737600-97754400	Weak transcription	HSMMtube	muscle
4	chr7:97737600-97762400	Weak transcription	Small Intestine	intestine
5	chr7:97737800-97759600	Weak transcription	Right Ventricle	heart
6	chr7:97737800-97760800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:97737800-97767000	Weak transcription	Fetal Stomach	stomach
8	chr7:97738800-97759200	Weak transcription	Dnd41	blood
9	chr7:97739400-97753400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:97740200-97755200	Weak transcription	Fetal Brain Female	brain
11	chr7:97741000-97760400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:97741000-97760600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:97741200-97767600	Weak transcription	Fetal Brain Male	brain
14	chr7:97741800-97755400	Weak transcription	Psoas Muscle	Psoas
15	chr7:97742000-97759200	Weak transcription	Fetal Intestine Large	intestine
16	chr7:97743200-97755000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:97743600-97758800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:97744000-97757400	Weak transcription	Thymus	Thymus
19	chr7:97744400-97759000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:97744800-97760000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr7:97745000-97759200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:97745200-97755600	Weak transcription	Primary T cells from cord blood	blood
23	chr7:97745600-97759800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:97745600-97781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:97746400-97760200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:97746400-97772600	Weak transcription	Fetal Kidney	kidney
27	chr7:97746600-97760200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:97746600-97767000	Weak transcription	Esophagus	oesophagus
29	chr7:97746800-97755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:97746800-97760200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:97746800-97761200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:97747000-97760400	Weak transcription	Stomach Mucosa	stomach
33	chr7:97747200-97755400	Weak transcription	Pancreas	Pancrea
34	chr7:97747400-97754800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:97747400-97755000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:97748800-97760400	Weak transcription	HUVEC	blood vessel
37	chr7:97749000-97760600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:97749200-97755400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:97749200-97755600	Weak transcription	HSMM	muscle
40	chr7:97749200-97756000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:97749400-97760800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:97749600-97760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:97749800-97755600	Weak transcription	NHEK	skin
44	chr7:97749800-97762400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:97750000-97760400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:97750200-97754800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:97750200-97760400	Weak transcription	Osteobl	bone
48	chr7:97750400-97753800	Enhancers	Right Atrium	heart
49	chr7:97750400-97755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:97750400-97756200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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