Variant report

Variant	rs6991936
Chromosome Location	chr8:121423321-121423322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121422783..121424823-chr8:121427898..121430507,2	K562	blood:
2	chr8:121422299..121424823-chr8:121427377..121429398,2	K562	blood:

Variant related genes	Relation type
ENSG00000172172	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11776121	0.84[ASN][1000 genomes]
rs11778778	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11781130	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11781698	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11786027	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11989221	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11994578	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675851	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12678944	0.94[ASN][1000 genomes]
rs12680935	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34162236	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35511242	0.95[ASN][1000 genomes]
rs35761432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35895310	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4870728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4870730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55695515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57481340	0.97[ASN][1000 genomes]
rs59967069	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7004427	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7006059	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7006363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7016084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7821312	1.00[CHB][hapmap];0.91[YRI][hapmap];0.86[ASN][1000 genomes]
rs7825296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835199	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7839548	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
2	chr8:121404000-121433400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
5	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:121407800-121424600	Weak transcription	Brain Angular Gyrus	brain
8	chr8:121407800-121442800	Weak transcription	NHEK	skin
9	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
10	chr8:121408400-121442800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:121409800-121446200	Weak transcription	Right Ventricle	heart
12	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:121410600-121456600	Weak transcription	Gastric	stomach
15	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
16	chr8:121411000-121443600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:121412600-121450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:121412800-121423400	Weak transcription	Brain Anterior Caudate	brain
20	chr8:121412800-121430600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
22	chr8:121413400-121428400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:121413400-121428600	Strong transcription	Dnd41	blood
24	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:121414400-121424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:121414600-121432400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:121414800-121426200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:121415800-121423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:121415800-121424800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:121415800-121424800	Weak transcription	Left Ventricle	heart
31	chr8:121415800-121425600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:121415800-121436600	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:121415800-121443400	Weak transcription	Brain Germinal Matrix	brain
34	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea
35	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
36	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
37	chr8:121416000-121423400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:121417000-121423400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:121417000-121424600	Weak transcription	HUVEC	blood vessel
40	chr8:121417000-121424800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:121417000-121435000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:121417000-121455800	Weak transcription	NHLF	lung
43	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain
44	chr8:121417000-121456400	Weak transcription	Fetal Kidney	kidney
45	chr8:121417200-121423400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:121417200-121423400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:121417200-121424600	Weak transcription	HMEC	breast
48	chr8:121417200-121426400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:121417200-121450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:121417200-121456000	Weak transcription	Brain Hippocampus Middle	brain

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