Variant report

Variant	rs2410989
Chromosome Location	chr7:102040604-102040605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102039108..102041457-chr7:102072250..102073986,2	MCF-7	breast:
2	chr7:102040552..102042722-chr7:102042732..102044976,2	MCF-7	breast:
3	chr7:102039767..102042543-chr7:102053786..102056016,2	MCF-7	breast:
4	chr7:102035721..102038936-chr7:102040051..102043232,5	K562	blood:
5	chr7:102035400..102038391-chr7:102038531..102040962,3	MCF-7	breast:
6	chr7:102035208..102038207-chr7:102038260..102040994,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128563	Chromatin interaction
ENSG00000160991	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10238421	0.97[ASN][1000 genomes]
rs10953364	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10953366	0.86[EUR][1000 genomes]
rs1109204	0.92[ASN][1000 genomes]
rs11444	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11496123	0.84[EUR][1000 genomes]
rs2049557	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2410988	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2960244	0.89[ASN][1000 genomes]
rs2960248	0.80[ASN][1000 genomes]
rs2960258	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2960268	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3988090	0.94[ASN][1000 genomes]
rs4338028	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729786	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729787	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4729788	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55743224	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55989026	0.89[ASN][1000 genomes]
rs55995033	0.86[EUR][1000 genomes]
rs58910789	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61652290	0.83[ASN][1000 genomes]
rs6955864	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971258	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73189811	0.88[EUR][1000 genomes]
rs73189869	0.86[EUR][1000 genomes]
rs7802423	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers 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
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102037600-102043600	Weak transcription	Aorta	Aorta
2	chr7:102037800-102044000	Weak transcription	Esophagus	oesophagus
3	chr7:102037800-102044800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:102037800-102045200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:102037800-102051400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:102038000-102041600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:102038000-102042400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:102038000-102044800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:102038000-102045800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:102038000-102046200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:102038000-102046400	Weak transcription	Fetal Heart	heart
12	chr7:102038000-102046400	Weak transcription	Small Intestine	intestine
13	chr7:102038000-102048000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:102038000-102048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:102038000-102049800	Weak transcription	Psoas Muscle	Psoas
16	chr7:102038000-102066800	Weak transcription	Stomach Mucosa	stomach
17	chr7:102038200-102040800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:102038200-102042400	Weak transcription	Brain Substantia Nigra	brain
19	chr7:102038200-102048200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:102038400-102041800	Strong transcription	K562	blood
21	chr7:102038400-102049800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:102038400-102055600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:102038600-102041200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:102038600-102044800	Strong transcription	Fetal Thymus	thymus
25	chr7:102038600-102048000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:102038600-102048200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:102038600-102049800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:102038800-102041600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:102038800-102043800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:102038800-102048800	Strong transcription	Fetal Stomach	stomach
31	chr7:102038800-102050400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:102038800-102053000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:102038800-102053000	Strong transcription	Thymus	Thymus
34	chr7:102038800-102054000	Strong transcription	Primary T cells from cord blood	blood
35	chr7:102038800-102068600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:102039000-102044600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:102039000-102050400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:102039000-102054000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:102039000-102055000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:102039000-102058000	Strong transcription	Osteobl	bone
41	chr7:102039000-102062400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:102039000-102062400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:102039200-102041600	Strong transcription	NHLF	lung
44	chr7:102039200-102041800	Strong transcription	HSMM	muscle
45	chr7:102039200-102043200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:102039200-102043200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:102039200-102044800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:102039200-102047600	Strong transcription	Brain Anterior Caudate	brain
49	chr7:102039200-102049200	Strong transcription	Hela-S3	cervix
50	chr7:102039200-102049800	Strong transcription	Fetal Intestine Small	intestine

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