Variant report

Variant	rs17137412
Chromosome Location	chr7:7800687-7800688
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7800187..7801769-chr7:7805082..7806731,2	MCF-7	breast:
2	chr7:7799254..7806715-chr7:8006933..8010615,16	MCF-7	breast:
3	chr7:7720832..7721819-chr7:7800536..7801542,7	MCF-7	breast:
4	chr7:7799683..7801357-chr7:7811737..7814386,2	K562	blood:
5	chr7:7799170..7801738-chr7:8011527..8014249,3	MCF-7	breast:
6	chr7:7800202..7802589-chr7:7949193..7951312,2	MCF-7	breast:
7	chr7:7800268..7802806-chr7:7819669..7821232,2	MCF-7	breast:
8	chr7:7799672..7804877-chr7:8006535..8011034,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214998	Chromatin interaction
ENSG00000106415	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000233108	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11982195	0.92[EUR][1000 genomes]
rs17137480	1.00[JPT][hapmap]
rs67451505	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv887487	chr7:7740914-7802561	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv887489	chr7:7770203-7913311	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)	21221126	GWAS catalog

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7773000-7802000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:7785600-7800800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:7790400-7801400	Weak transcription	Stomach Mucosa	stomach
4	chr7:7791000-7801400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:7791600-7801400	Weak transcription	Psoas Muscle	Psoas
6	chr7:7794400-7801400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:7796600-7801200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:7796600-7801400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:7796600-7802000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:7796800-7802000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:7797600-7801200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:7797600-7801200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:7797600-7801400	Weak transcription	HSMMtube	muscle
14	chr7:7797600-7801600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:7798000-7801600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:7799800-7802200	Weak transcription	Gastric	stomach
17	chr7:7800000-7801000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:7800200-7800800	Enhancers	HUVEC	blood vessel
19	chr7:7800200-7801000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:7800200-7801000	Enhancers	Fetal Muscle Leg	muscle
21	chr7:7800200-7801200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:7800200-7801200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:7800200-7801400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:7800200-7801400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:7800200-7801400	Enhancers	Thymus	Thymus
26	chr7:7800200-7801800	Enhancers	Fetal Thymus	thymus
27	chr7:7800400-7800800	Enhancers	GM12878-XiMat	blood
28	chr7:7800400-7801000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr7:7800400-7801200	Enhancers	Dnd41	blood
30	chr7:7800400-7801400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:7800400-7801400	Weak transcription	Right Ventricle	heart
32	chr7:7800600-7800800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:7800600-7800800	Enhancers	Left Ventricle	heart
34	chr7:7800600-7801200	Enhancers	Colon Smooth Muscle	Colon
35	chr7:7800600-7801200	Enhancers	NHDF-Ad	bronchial
36	chr7:7800600-7801400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:7800600-7801400	Enhancers	Primary B cells from peripheral blood	blood
38	chr7:7800600-7801400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:7800600-7801400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:7800600-7801600	Enhancers	Fetal Stomach	stomach

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