Variant report

Variant	rs10242378
Chromosome Location	chr7:7225487-7225488
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7220778..7225200-chr7:7225255..7228969,6	MCF-7	breast:
2	chr7:7216761..7219425-chr7:7225133..7226670,2	K562	blood:
3	chr7:7215938..7217878-chr7:7224426..7227305,2	K562	blood:

Variant related genes	Relation type
ENSG00000244167	Chromatin interaction
ENSG00000106392	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1008896	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10215143	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244392	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10252611	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253466	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10253709	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260052	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260457	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273490	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275169	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280795	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282249	0.98[ASN][1000 genomes]
rs11760845	0.92[ASN][1000 genomes]
rs11773799	0.92[ASN][1000 genomes]
rs11981957	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055926	0.84[EUR][1000 genomes]
rs13226799	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13228554	0.91[ASN][1000 genomes]
rs13234672	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242769	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13245879	0.82[ASN][1000 genomes]
rs17164679	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165258	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17165285	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28803004	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28883357	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34137418	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34287623	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34466774	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34534187	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35084224	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35234968	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660747	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937955	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35949736	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3807859	0.81[EUR][1000 genomes]
rs56278796	0.91[ASN][1000 genomes]
rs61048998	0.88[ASN][1000 genomes]
rs6942455	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6945013	0.88[ASN][1000 genomes]
rs6951671	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977673	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533354	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533355	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533359	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533362	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71533363	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71533364	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	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
17	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription 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	33 gene(s)	inside rSNPs	diseases
19	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7223200-7225800	Weak transcription	Spleen	Spleen
2	chr7:7223200-7226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:7223200-7234000	Weak transcription	Small Intestine	intestine
4	chr7:7223400-7240800	Weak transcription	Esophagus	oesophagus
5	chr7:7223400-7241400	Weak transcription	Pancreas	Pancrea
6	chr7:7223800-7225800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:7223800-7225800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:7223800-7226400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:7223800-7226600	Enhancers	Fetal Brain Male	brain
10	chr7:7223800-7226800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr7:7223800-7226800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:7223800-7227800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:7223800-7228000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr7:7223800-7228000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:7223800-7229600	Weak transcription	NHLF	lung
16	chr7:7223800-7229800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:7223800-7230000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:7223800-7234800	Weak transcription	Right Ventricle	heart
19	chr7:7223800-7240800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:7223800-7241000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:7223800-7279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:7224000-7225600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:7224000-7226600	Enhancers	Fetal Intestine Small	intestine
24	chr7:7224000-7227600	Weak transcription	Placenta	Placenta
25	chr7:7224000-7228000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:7224000-7229600	Weak transcription	Fetal Lung	lung
27	chr7:7224000-7230000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr7:7224000-7230400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:7224200-7229400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:7224400-7226000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:7224400-7229600	Weak transcription	A549	lung
32	chr7:7224400-7230000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr7:7224600-7225600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
34	chr7:7224600-7225600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:7224600-7232800	Weak transcription	HUVEC	blood vessel
36	chr7:7224800-7225600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:7224800-7225600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:7224800-7225600	Enhancers	Fetal Heart	heart
39	chr7:7224800-7225800	Genic enhancers	H9 Cell Line	embryonic stem cell
40	chr7:7224800-7225800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:7224800-7225800	Enhancers	Psoas Muscle	Psoas
42	chr7:7224800-7225800	Flanking Active TSS	HepG2	liver
43	chr7:7224800-7226200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
44	chr7:7224800-7226800	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr7:7225000-7225600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
46	chr7:7225000-7225600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
47	chr7:7225000-7225800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:7225000-7225800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:7225000-7226000	Enhancers	Right Atrium	heart
50	chr7:7225000-7226000	Transcr. at gene 5' and 3'	Osteobl	bone

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