Variant report

Variant	rs10277378
Chromosome Location	chr7:100037209-100037210
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	NR2F2	chr7:100037202-100037716	K562	blood:	n/a	n/a
2	RCOR1	chr7:100036995-100038281	IMR90	lung:	n/a	n/a
3	MAFK	chr7:100037125-100037555	IMR90	lung:	n/a	n/a
4	JUN	chr7:100037001-100037697	K562	blood:	n/a	chr7:100037508-100037518 chr7:100037509-100037517 chr7:100037508-100037518
5	MXI1	chr7:100036823-100037716	IMR90	lung:	n/a	n/a
6	GATA3	chr7:100037200-100037548	T-47D	breast:	n/a	n/a
7	CHD1	chr7:100037039-100038303	IMR90	lung:	n/a	n/a
8	GATA3	chr7:100037161-100037593	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100036909..100039233-chr7:100046455..100048526,2	MCF-7	breast:
2	chr7:100036205..100037986-chr7:100118755..100120624,2	K562	blood:
3	chr7:100036201..100037741-chr7:100039968..100042634,2	MCF-7	breast:
4	chr7:100034415..100037250-chr7:100289483..100291820,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R35	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10261511	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs10267127	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs10270442	1.00[ASW][hapmap]
rs28666818	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv984550	chr7:100034415-100080060	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100034200-100037600	Weak transcription	Spleen	Spleen
2	chr7:100034200-100039600	Weak transcription	Lung	lung
3	chr7:100034200-100042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:100034400-100037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:100034600-100038200	Enhancers	HUVEC	blood vessel
6	chr7:100034600-100039200	Weak transcription	Fetal Stomach	stomach
7	chr7:100034600-100039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:100034600-100039400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:100034600-100039800	Weak transcription	Right Ventricle	heart
10	chr7:100034600-100041600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:100034600-100042000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:100034600-100042000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:100034600-100042000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:100034600-100042000	Weak transcription	Right Atrium	heart
15	chr7:100034600-100042000	Weak transcription	HSMM	muscle
16	chr7:100034600-100043800	Weak transcription	NHEK	skin
17	chr7:100034600-100047800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:100034600-100047800	Weak transcription	Brain Angular Gyrus	brain
19	chr7:100034600-100047800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:100034600-100047800	Weak transcription	Esophagus	oesophagus
21	chr7:100034600-100047800	Weak transcription	Fetal Brain Female	brain
22	chr7:100034600-100047800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:100034800-100039400	Weak transcription	Gastric	stomach
24	chr7:100034800-100040400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:100034800-100040800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:100035000-100037400	Weak transcription	A549	lung
27	chr7:100035000-100041000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:100035000-100041400	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:100035000-100042000	Weak transcription	Fetal Thymus	thymus
30	chr7:100035000-100042000	Weak transcription	Pancreas	Pancrea
31	chr7:100035000-100042000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:100035000-100042200	Weak transcription	Primary T cells from cord blood	blood
33	chr7:100035000-100042200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:100035000-100042200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:100035000-100042600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:100035000-100047800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:100035200-100042000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:100035200-100047800	Weak transcription	Thymus	Thymus
39	chr7:100035400-100042200	Weak transcription	GM12878-XiMat	blood
40	chr7:100035600-100039800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:100036600-100038200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:100036600-100038200	Enhancers	NHLF	lung
43	chr7:100036600-100044200	Enhancers	Placenta	Placenta
44	chr7:100036800-100037600	Enhancers	Osteobl	bone
45	chr7:100036800-100037800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:100036800-100038200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:100036800-100038200	Enhancers	Hela-S3	cervix
48	chr7:100036800-100038200	Enhancers	HepG2	liver
49	chr7:100037000-100047800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:100037200-100037600	Flanking Active TSS	K562	blood

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