Variant report

Variant	rs10234323
Chromosome Location	chr7:110721488-110721489
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10230261	1.00[YRI][hapmap]
rs10232461	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10232632	1.00[YRI][hapmap]
rs10232638	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235471	1.00[AMR][1000 genomes]
rs10239308	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10239982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242243	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242510	1.00[AFR][1000 genomes]
rs10247851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248799	1.00[YRI][hapmap]
rs10251218	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10253600	1.00[YRI][hapmap]
rs10257658	1.00[AFR][1000 genomes]
rs10260023	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10260878	1.00[YRI][hapmap]
rs10261952	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10262121	1.00[YRI][hapmap]
rs10263280	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266618	1.00[AMR][1000 genomes]
rs10266806	1.00[AMR][1000 genomes]
rs10266977	1.00[YRI][hapmap]
rs10267717	1.00[YRI][hapmap]
rs10276462	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10278436	1.00[AMR][1000 genomes]
rs10279604	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282078	1.00[YRI][hapmap]
rs13438044	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438736	1.00[YRI][hapmap]
rs28401368	1.00[AFR][1000 genomes]
rs28415597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28520723	1.00[AFR][1000 genomes]
rs28524030	1.00[AFR][1000 genomes]
rs28533798	1.00[AFR][1000 genomes]
rs28535164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28568792	1.00[AFR][1000 genomes]
rs28729497	1.00[AFR][1000 genomes]
rs28890022	0.89[AFR][1000 genomes]
rs6949309	1.00[YRI][hapmap]
rs6968936	1.00[AMR][1000 genomes]
rs7810421	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	6 gene(s)	inside rSNPs	diseases
2	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2830178	chr7:110645431-110778571	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1024477	chr7:110660006-110944477	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv608154	chr7:110688993-110945501	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110714800-110722200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:110715000-110721800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:110715000-110721800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:110715200-110722000	Weak transcription	Fetal Lung	lung
5	chr7:110715200-110722400	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:110716400-110722000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:110716800-110721800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:110716800-110722000	Weak transcription	NHLF	lung
9	chr7:110716800-110722200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:110717000-110722200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:110717200-110721800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:110717200-110721800	Weak transcription	NH-A	brain
13	chr7:110717600-110721800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:110717800-110721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:110718200-110722000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:110719800-110722000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:110720000-110723800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr7:110720200-110723600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:110720200-110723800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:110720600-110722400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:110720800-110722400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:110720800-110722600	Enhancers	Dnd41	blood
23	chr7:110720800-110724000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:110720800-110724600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr7:110720800-110725400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:110720800-110725600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:110720800-110726800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:110721000-110725600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr7:110721400-110721600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr7:110721400-110721800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:110721400-110721800	Flanking Active TSS	GM12878-XiMat	blood
32	chr7:110721400-110722600	Enhancers	Small Intestine	intestine
33	chr7:110721400-110722800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:110721400-110722800	Enhancers	Fetal Thymus	thymus
35	chr7:110721400-110722800	Enhancers	Thymus	Thymus
36	chr7:110721400-110723600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr7:110721400-110723800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:110721400-110724600	Enhancers	Primary T cells fromperipheralblood	blood

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