Variant report

Variant	rs10261511
Chromosome Location	chr7:100083805-100083806
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	FOS	chr7:100083471-100083861	HUVEC	blood vessel:	n/a	chr7:100083611-100083623 chr7:100083811-100083820 chr7:100083641-100083649 chr7:100083810-100083819 chr7:100083639-100083650 chr7:100083640-100083651
2	POLR2A	chr7:100083783-100084488	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100025812..100027550-chr7:100082592..100085700,3	K562	blood:
2	chr7:100025394..100027753-chr7:100083399..100085639,3	MCF-7	breast:
3	chr7:100083221..100085283-chr7:100471464..100473239,2	K562	blood:
4	chr7:100079431..100084153-chr7:100084209..100089579,10	K562	blood:
5	chr7:100080163..100084843-chr7:100085212..100090254,7	MCF-7	breast:

Variant related genes	Relation type
NYAP1	TF binding region
ENSG00000266372	TF binding region
ENSG00000166924	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10229308	1.00[LWK][hapmap]
rs10267127	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs10277378	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs10279801	1.00[AFR][1000 genomes]
rs28411964	1.00[AFR][1000 genomes]
rs28444266	1.00[AFR][1000 genomes]
rs28666818	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv888781	chr7:100060928-100097895	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
12	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv888784	chr7:100076614-100097895	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr7:100081000-100090600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:100081400-100084200	Enhancers	Hela-S3	cervix
3	chr7:100081800-100086800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:100081800-100087400	Weak transcription	NHLF	lung
5	chr7:100081800-100091000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:100081800-100091000	Weak transcription	Right Atrium	heart
7	chr7:100082000-100084200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:100082000-100084200	Enhancers	Adipose Nuclei	Adipose
9	chr7:100082000-100086800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:100082000-100086800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:100082000-100087400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:100082000-100090800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:100082200-100084600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:100082200-100085800	Weak transcription	Fetal Intestine Large	intestine
15	chr7:100082200-100086000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:100082200-100087000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:100082200-100090600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:100082400-100084000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:100082400-100084000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:100082400-100084000	Weak transcription	Pancreas	Pancrea
21	chr7:100082400-100084400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:100082400-100084600	Weak transcription	Placenta	Placenta
23	chr7:100082400-100085000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:100082400-100085000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:100082400-100085000	Genic enhancers	Fetal Stomach	stomach
26	chr7:100082400-100085000	Enhancers	A549	lung
27	chr7:100082400-100085200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:100082400-100087400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:100082400-100088800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:100082600-100084200	Enhancers	Brain Angular Gyrus	brain
31	chr7:100082600-100084800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:100082600-100085200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:100082600-100085400	Weak transcription	Fetal Intestine Small	intestine
34	chr7:100082600-100085800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:100082600-100085800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:100082600-100086200	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:100082600-100086800	Weak transcription	Brain Substantia Nigra	brain
38	chr7:100082600-100087400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:100082600-100090400	Weak transcription	Stomach Mucosa	stomach
40	chr7:100082600-100090800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:100082600-100091000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:100082600-100091600	Weak transcription	Fetal Kidney	kidney
43	chr7:100082800-100084000	Enhancers	HUVEC	blood vessel
44	chr7:100082800-100084400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:100082800-100085200	Enhancers	Fetal Brain Male	brain
46	chr7:100083000-100084800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:100083000-100085600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:100083200-100084000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:100083200-100084000	Enhancers	Spleen	Spleen
50	chr7:100083200-100084200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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