Variant report

Variant	rs6935120
Chromosome Location	chr6:38647020-38647021
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	chr6:38640160..38642100-chr6:38645505..38647070,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16890915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61221102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6458062	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414334	1.00[AMR][1000 genomes]
rs73414344	1.00[AMR][1000 genomes]
rs7739391	1.00[AMR][1000 genomes]
rs7739975	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7772971	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3335534	chr6:38646782-38648720	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38612800-38648400	Weak transcription	Brain Anterior Caudate	brain
2	chr6:38612800-38652800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:38614800-38654800	Weak transcription	Brain Angular Gyrus	brain
4	chr6:38615200-38649400	Weak transcription	Fetal Brain Male	brain
5	chr6:38640000-38649400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:38640000-38649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:38640000-38652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:38640200-38650200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:38641000-38654800	Weak transcription	Fetal Heart	heart
10	chr6:38641200-38670000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:38641400-38649400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:38641600-38668000	Weak transcription	NHLF	lung
13	chr6:38641800-38649400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:38641800-38650600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:38641800-38651000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:38641800-38654800	Weak transcription	Pancreas	Pancrea
17	chr6:38642000-38648400	Weak transcription	Small Intestine	intestine
18	chr6:38642000-38650800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:38642000-38652600	Weak transcription	Stomach Mucosa	stomach
20	chr6:38642000-38657600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:38642200-38651400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:38642200-38652200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:38642200-38656400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:38642400-38647200	Strong transcription	Adipose Nuclei	Adipose
25	chr6:38642400-38647200	Strong transcription	Fetal Intestine Large	intestine
26	chr6:38642400-38647400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:38642400-38647600	Strong transcription	Fetal Thymus	thymus
28	chr6:38642400-38648400	Strong transcription	HepG2	liver
29	chr6:38642400-38649800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:38642400-38650200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:38642400-38651200	Strong transcription	Fetal Lung	lung
32	chr6:38642400-38652000	Strong transcription	Fetal Muscle Leg	muscle
33	chr6:38642400-38652400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:38642400-38653600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:38642400-38653800	Strong transcription	Dnd41	blood
36	chr6:38642400-38654000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:38642400-38654800	Weak transcription	Psoas Muscle	Psoas
38	chr6:38642400-38655200	Strong transcription	NHEK	skin
39	chr6:38642400-38657000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:38642400-38660000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:38642400-38665600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:38642600-38647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:38642600-38647400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:38642600-38647400	Strong transcription	Thymus	Thymus
45	chr6:38642600-38648200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:38642600-38650000	Strong transcription	Hela-S3	cervix
47	chr6:38642600-38651800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:38642600-38653400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:38642600-38653600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:38642600-38654600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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