Variant report

Variant	rs7313628
Chromosome Location	chr12:124107015-124107016
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124104075..124107132-chr12:124195548..124198352,3	MCF-7	breast:
2	chr12:124103214..124105859-chr12:124106055..124109639,4	MCF-7	breast:
3	chr12:124105722..124107597-chr12:124119086..124122015,4	K562	blood:
4	chr12:124105003..124107818-chr12:124109888..124111982,3	MCF-7	breast:
5	chr12:123867412..123869840-chr12:124105069..124107721,2	K562	blood:
6	chr12:124105043..124107387-chr12:124113363..124115205,2	K562	blood:
7	chr12:124105734..124108451-chr12:124133249..124135719,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183955	Chromatin interaction
ENSG00000185344	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1051793	0.81[CEU][hapmap]
rs1060637	0.92[CEU][hapmap]
rs10846531	0.83[ASN][1000 genomes]
rs10846535	0.92[CEU][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10846537	0.85[CEU][hapmap]
rs10846540	0.80[EUR][1000 genomes]
rs11057307	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11057320	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11572920	0.92[CEU][hapmap]
rs11572952	0.82[CEU][hapmap]
rs11609591	0.82[CEU][hapmap]
rs11612030	0.81[CEU][hapmap]
rs11612479	0.81[CEU][hapmap]
rs11612927	0.81[CEU][hapmap]
rs11615300	0.81[EUR][1000 genomes]
rs12813346	0.81[EUR][1000 genomes]
rs12821219	0.82[EUR][1000 genomes]
rs12821242	0.81[CEU][hapmap]
rs12829893	0.84[CEU][hapmap]
rs12830927	0.92[CEU][hapmap]
rs1515814	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1515815	0.92[CEU][hapmap]
rs2048802	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs2222061	0.82[EUR][1000 genomes]
rs2250026	0.89[CEU][hapmap]
rs3748268	0.83[ASN][1000 genomes]
rs3748269	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4040225	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4456350	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930708	0.89[CEU][hapmap]
rs6488883	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6488888	0.85[CEU][hapmap]
rs6488897	0.85[CEU][hapmap]
rs6551	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7133199	0.82[CEU][hapmap]
rs7134074	0.85[CEU][hapmap]
rs7134896	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7135624	0.88[EUR][1000 genomes]
rs7136939	0.81[CEU][hapmap]
rs7137946	0.89[CEU][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs7139193	0.89[CEU][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs7294984	0.82[CEU][hapmap]
rs7297576	0.85[CEU][hapmap]
rs7298440	0.81[CEU][hapmap]
rs7298831	0.84[CEU][hapmap]
rs7301907	0.83[EUR][1000 genomes]
rs7302183	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7302449	0.83[EUR][1000 genomes]
rs7302649	0.81[CEU][hapmap]
rs7306549	0.85[CEU][hapmap]
rs7307008	0.84[CEU][hapmap]
rs7308862	0.85[CEU][hapmap]
rs7309528	0.81[CEU][hapmap]
rs7313032	0.85[CEU][hapmap]
rs7313261	0.82[CEU][hapmap]
rs7399224	0.81[CEU][hapmap]
rs786422	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786423	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786425	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786441	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs786443	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786444	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786445	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786447	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786448	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786449	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786452	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7953599	0.81[CEU][hapmap]
rs7958693	0.88[CEU][hapmap]
rs7963968	0.81[CEU][hapmap]
rs7964443	0.85[CEU][hapmap]
rs7966867	0.89[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs7966882	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7971452	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7972413	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974279	0.82[CEU][hapmap]
rs7975233	0.81[CEU][hapmap]
rs7979528	0.81[CEU][hapmap]
rs884892	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs908373	0.96[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124087800-124109600	Weak transcription	Right Atrium	heart
2	chr12:124088000-124107200	Strong transcription	K562	blood
3	chr12:124088200-124116000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:124088200-124117000	Strong transcription	Fetal Stomach	stomach
5	chr12:124088400-124108000	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr12:124088400-124116000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:124088400-124116000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:124088400-124116000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:124088400-124116000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:124088400-124116000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:124088400-124116200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:124088400-124116800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:124088400-124117000	Strong transcription	Fetal Intestine Small	intestine
14	chr12:124088600-124107400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr12:124088600-124116000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:124088600-124116000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:124088600-124116000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:124088600-124116000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:124088600-124116000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:124088600-124116000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:124088600-124116200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:124088600-124116200	Strong transcription	Fetal Thymus	thymus
23	chr12:124088600-124116800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:124088600-124116800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:124088600-124116800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr12:124088600-124117000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:124088800-124107600	Strong transcription	NH-A	brain
28	chr12:124088800-124116000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:124088800-124116000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:124088800-124116000	Strong transcription	Fetal Intestine Large	intestine
31	chr12:124089000-124107400	Strong transcription	Fetal Lung	lung
32	chr12:124089000-124116000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:124089000-124116200	Strong transcription	Brain Germinal Matrix	brain
34	chr12:124089200-124107400	Strong transcription	Hela-S3	cervix
35	chr12:124089200-124115400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:124089200-124116000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:124089200-124116000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:124089200-124116000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:124089200-124116200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:124089200-124116400	Strong transcription	Liver	Liver
41	chr12:124089200-124116600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:124089600-124116000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:124089600-124116000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:124089600-124116000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr12:124089800-124116200	Strong transcription	Thymus	Thymus
46	chr12:124089800-124117000	Strong transcription	Placenta	Placenta
47	chr12:124090000-124115600	Strong transcription	GM12878-XiMat	blood
48	chr12:124090000-124116000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:124090000-124116000	Strong transcription	Primary B cells from cord blood	blood
50	chr12:124090000-124116000	Strong transcription	Primary T cells from cord blood	blood

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