Variant report

Variant	rs11971316
Chromosome Location	chr7:21482784-21482785
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21482757..21484711-chr7:21494486..21496179,2	K562	blood:
2	chr7:21465833..21470662-chr7:21478893..21484053,5	K562	blood:

Variant related genes	Relation type
ENSG00000105866	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1013716	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs10269168	0.91[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10272006	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11983472	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12668354	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12672629	1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12673975	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2158414	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2237303	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2282888	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2390539	1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28541530	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3735440	1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs40245	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs41495348	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4397283	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4722031	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4722033	0.83[ASN][1000 genomes]
rs6461561	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6461562	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6461567	0.86[ASN][1000 genomes]
rs6461568	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6943399	0.86[EUR][1000 genomes]
rs6948810	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6974974	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6978922	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7780553	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7781732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7796796	0.91[ASN][1000 genomes]
rs7798894	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs9639377	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9639378	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv971483	chr7:21479694-21488485	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21468400-21490600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:21468400-21497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:21468600-21488600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:21468600-21495600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:21468800-21489000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:21468800-21493600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:21469000-21483800	Weak transcription	Adipose Nuclei	Adipose
8	chr7:21470000-21488600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:21470000-21490400	Weak transcription	Fetal Kidney	kidney
10	chr7:21470000-21497800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:21470200-21488600	Weak transcription	Gastric	stomach
12	chr7:21470200-21490600	Weak transcription	Psoas Muscle	Psoas
13	chr7:21470200-21494400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:21470400-21488600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:21470400-21490600	Weak transcription	Pancreas	Pancrea
16	chr7:21470400-21494600	Weak transcription	Fetal Stomach	stomach
17	chr7:21470400-21516600	Weak transcription	Liver	Liver
18	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
19	chr7:21470600-21490800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:21471600-21488400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:21471800-21484000	Weak transcription	HUVEC	blood vessel
22	chr7:21471800-21486600	Weak transcription	Aorta	Aorta
23	chr7:21472000-21483800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:21472000-21483800	Weak transcription	Fetal Lung	lung
25	chr7:21472000-21487200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:21472000-21488600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:21472000-21488800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:21472000-21489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:21472000-21495200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:21472000-21495200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:21472200-21482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:21472800-21488200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:21472800-21488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:21472800-21488600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:21472800-21490400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:21472800-21490400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:21472800-21490600	Weak transcription	Left Ventricle	heart
38	chr7:21472800-21490600	Weak transcription	Lung	lung
39	chr7:21472800-21492000	Weak transcription	Small Intestine	intestine
40	chr7:21472800-21506000	Weak transcription	Right Ventricle	heart
41	chr7:21473200-21486600	Weak transcription	Ovary	ovary
42	chr7:21473200-21488400	Weak transcription	Dnd41	blood
43	chr7:21473600-21489600	Weak transcription	Fetal Brain Male	brain
44	chr7:21474200-21493400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:21474800-21497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
47	chr7:21475400-21483000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:21476000-21486600	Weak transcription	Thymus	Thymus
49	chr7:21476200-21493200	Weak transcription	Brain Anterior Caudate	brain
50	chr7:21476400-21492400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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