Variant report

Variant	rs2227714
Chromosome Location	chr7:100781909-100781910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:50 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100485453..100487476-chr7:100780458..100783244,2	K562	blood:
2	chr7:100491406..100495036-chr7:100779610..100782610,3	MCF-7	breast:
3	chr7:100769788..100771948-chr7:100781590..100784557,3	MCF-7	breast:
4	chr7:100780042..100783761-chr7:100802307..100806519,5	MCF-7	breast:
5	chr7:100744230..100748590-chr7:100780366..100783718,4	K562	blood:
6	chr7:100720707..100722495-chr7:100781075..100783381,2	K562	blood:
7	chr7:100492341..100495034-chr7:100780506..100782862,2	K562	blood:
8	chr7:100737935..100741233-chr7:100779115..100781948,4	MCF-7	breast:
9	chr7:100780577..100782093-chr7:100785960..100787628,2	K562	blood:
10	chr7:100737789..100738771-chr7:100781346..100782175,4	MCF-7	breast:
11	chr7:100781489..100782147-chr7:100887169..100888105,2	K562	blood:
12	chr7:100779234..100783955-chr7:100785542..100789331,5	K562	blood:
13	chr7:100781491..100782159-chr7:100926020..100926564,3	K562	blood:
14	chr7:100779414..100783459-chr7:100798726..100802024,6	MCF-7	breast:
15	chr7:100737739..100738809-chr7:100780869..100782138,8	MCF-7	breast:
16	chr7:100779815..100782415-chr7:100806977..100808912,3	MCF-7	breast:
17	chr7:100781684..100785304-chr7:100798644..100801104,3	MCF-7	breast:
18	chr7:100779282..100783217-chr7:100806580..100809194,3	MCF-7	breast:
19	chr7:100701345..100704259-chr7:100780586..100783131,2	MCF-7	breast:
20	chr7:100742551..100745856-chr7:100780456..100782799,3	MCF-7	breast:
21	chr7:100742866..100743779-chr7:100781576..100782208,2	MCF-7	breast:
22	chr7:100780601..100783229-chr7:100810687..100813674,2	K562	blood:
23	chr7:100780236..100781911-chr7:100835046..100837544,2	K562	blood:
24	chr7:100609417..100610011-chr7:100781393..100782177,2	K562	blood:
25	chr7:100780384..100783181-chr7:100803381..100807251,4	K562	blood:
26	chr7:100750302..100752925-chr7:100778093..100782237,4	MCF-7	breast:
27	chr7:100780498..100782818-chr7:100802310..100804881,2	K562	blood:
28	chr7:100492151..100493007-chr7:100781451..100782108,2	MCF-7	breast:
29	chr7:100769576..100770128-chr7:100781306..100782073,2	MCF-7	breast:
30	chr7:100702699..100703270-chr7:100781234..100782138,2	K562	blood:
31	chr7:100736774..100741131-chr7:100778938..100782147,6	MCF-7	breast:
32	chr7:100728704..100730685-chr7:100780505..100782740,3	K562	blood:
33	chr7:100781461..100784552-chr7:100848282..100850837,3	K562	blood:
34	chr7:100727415..100730609-chr7:100780328..100782151,4	K562	blood:
35	chr7:100720993..100722495-chr7:100780421..100782575,2	K562	blood:
36	chr7:100736915..100741007-chr7:100780476..100783159,3	K562	blood:
37	chr7:100780391..100784635-chr7:100796086..100800882,8	K562	blood:
38	chr7:100780501..100783397-chr7:100894230..100897012,3	K562	blood:
39	chr7:100780639..100782466-chr7:100782788..100785369,2	MCF-7	breast:
40	chr7:100741030..100743914-chr7:100780572..100782381,3	K562	blood:
41	chr7:100767265..100771934-chr7:100778904..100783010,6	K562	blood:
42	chr7:100726373..100729644-chr7:100779186..100782906,3	MCF-7	breast:
43	chr7:100748249..100751163-chr7:100779870..100782174,3	K562	blood:
44	chr7:100727419..100730152-chr7:100781603..100783210,3	MCF-7	breast:
45	chr7:100779738..100781911-chr7:100836044..100838178,2	K562	blood:
46	chr7:100737941..100738769-chr7:100781582..100782241,2	K562	blood:
47	chr7:100768262..100771684-chr7:100777874..100781992,4	K562	blood:
48	chr7:100779832..100783181-chr7:100805552..100807331,3	K562	blood:
49	chr7:100780763..100782413-chr7:100794775..100797651,2	MCF-7	breast:
50	chr7:100764109..100766499-chr7:100780947..100783449,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214253	Chromatin interaction
ENSG00000264425	Chromatin interaction
ENSG00000106366	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000260336	Chromatin interaction
ENSG00000087085	Chromatin interaction
ENSG00000222636	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000176125	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1050813	1.00[CHD][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	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
5	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
6	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
9	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100770800-100783000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:100772000-100797400	Weak transcription	Right Atrium	heart
3	chr7:100779200-100783200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:100779400-100787200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:100780200-100782400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr7:100780200-100782600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:100780600-100782800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:100780800-100782000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr7:100780800-100782000	Enhancers	Colon Smooth Muscle	Colon
10	chr7:100780800-100782000	Enhancers	Fetal Muscle Trunk	muscle
11	chr7:100780800-100782200	ZNF genes & repeats	Fetal Intestine Large	intestine
12	chr7:100780800-100782200	Enhancers	Small Intestine	intestine
13	chr7:100780800-100782600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:100780800-100782600	Enhancers	Duodenum Mucosa	Duodenum
15	chr7:100781000-100782000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:100781000-100782000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:100781000-100782000	Enhancers	Brain Angular Gyrus	brain
18	chr7:100781000-100782000	Enhancers	Left Ventricle	heart
19	chr7:100781000-100782000	Enhancers	Rectal Smooth Muscle	rectum
20	chr7:100781000-100782400	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:100781000-100782400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:100781000-100782600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr7:100781200-100782000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:100781200-100782000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:100781200-100782000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:100781200-100782000	Enhancers	Fetal Heart	heart
27	chr7:100781200-100782000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr7:100781200-100782000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:100781200-100782400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:100781200-100782400	Enhancers	Fetal Intestine Small	intestine
31	chr7:100781200-100782400	Enhancers	Lung	lung
32	chr7:100781400-100782000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:100781400-100782000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:100781400-100782000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:100781400-100782000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:100781400-100782000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr7:100781400-100782000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:100781400-100782000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:100781400-100782000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:100781400-100782000	Enhancers	Colonic Mucosa	Colon
41	chr7:100781400-100782000	Enhancers	Fetal Kidney	kidney
42	chr7:100781400-100782000	Enhancers	Fetal Lung	lung
43	chr7:100781400-100782000	Enhancers	Fetal Stomach	stomach
44	chr7:100781400-100782000	Bivalent Enhancer	Thymus	Thymus
45	chr7:100781400-100782000	Enhancers	HUVEC	blood vessel
46	chr7:100781400-100782000	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr7:100781400-100782000	Enhancers	NHLF	lung
48	chr7:100781400-100782600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:100781400-100782600	Weak transcription	Aorta	Aorta
50	chr7:100781400-100782600	Enhancers	NH-A	brain

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