Variant report

Variant	rs34316285
Chromosome Location	chr6:44216271-44216272
allele	A/C/T
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44044085..44046991-chr6:44216069..44218144,2	K562	blood:
2	chr6:43593505..43599096-chr6:44213646..44217999,9	K562	blood:
3	chr6:44040622..44046991-chr6:44213898..44218144,6	K562	blood:
4	chr6:43740852..43742547-chr6:44215186..44217318,2	K562	blood:
5	chr6:43596586..43599214-chr6:44212975..44217729,5	K562	blood:
6	chr6:44147611..44150566-chr6:44216082..44217959,2	K562	blood:
7	chr6:28864761..28865369-chr6:44216136..44216861,2	Hela-S3	cervix:
8	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
9	chr6:44122736..44127198-chr6:44213713..44218106,8	K562	blood:
10	chr6:27832024..27834412-chr6:44214386..44216392,2	MCF-7	breast:
11	chr6:44215194..44217832-chr6:44265456..44268236,2	K562	blood:
12	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
13	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
14	chr6:44133200..44145960-chr6:44211718..44220192,28	K562	blood:
15	chr5:180236324..180238724-chr6:44214143..44216444,2	MCF-7	breast:
16	chr6:44106717..44108316-chr6:44214110..44216405,3	K562	blood:
17	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
18	chr6:44187521..44192952-chr6:44212221..44217106,13	MCF-7	breast:
19	chr6:44194649..44200475-chr6:44213732..44216333,8	MCF-7	breast:
20	chr6:44213880..44217687-chr6:44354177..44357164,5	K562	blood:
21	chr6:44216083..44217678-chr6:44271012..44273836,2	MCF-7	breast:
22	chr6:44214289..44217035-chr6:44262196..44266038,3	K562	blood:
23	chr10:6186819..6188569-chr6:44214871..44216412,2	K562	blood:
24	chr6:43738049..43742352-chr6:44213795..44216744,7	K562	blood:
25	chr6:43637159..43639334-chr6:44216185..44218215,2	K562	blood:
26	chr6:44213575..44218708-chr6:44278177..44283526,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112759	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000217646	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000231881	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000198374	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000137225	Chromatin interaction
ENSG00000096401	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000131446	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35142270	1.00[AFR][1000 genomes]
rs35174143	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 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	chr6:44213400-44216400	Active TSS	Fetal Brain Female	brain
2	chr6:44213400-44216400	Active TSS	Psoas Muscle	Psoas
3	chr6:44213600-44216400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:44213600-44216400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:44213600-44216400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr6:44213600-44216600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:44213600-44216600	Active TSS	Aorta	Aorta
8	chr6:44213600-44216600	Active TSS	Ovary	ovary
9	chr6:44213600-44217000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:44213800-44216400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:44213800-44216400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr6:44213800-44216400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:44213800-44216400	Active TSS	Duodenum Mucosa	Duodenum
14	chr6:44213800-44216400	Active TSS	Left Ventricle	heart
15	chr6:44213800-44216400	Active TSS	Placenta Amnion	Placenta Amnion
16	chr6:44213800-44216600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:44213800-44216600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:44214000-44216400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:44214000-44216400	Active TSS	Right Ventricle	heart
20	chr6:44214000-44216400	Active TSS	NHLF	lung
21	chr6:44214000-44216400	Active TSS	Osteobl	bone
22	chr6:44214000-44216600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:44214000-44216600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:44214000-44216800	Active TSS	Pancreas	Pancrea
25	chr6:44214000-44217000	Active TSS	HSMMtube	muscle
26	chr6:44214200-44217800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:44214400-44216600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:44214800-44216400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:44214800-44216400	Active TSS	Placenta	Placenta
30	chr6:44214800-44216600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
31	chr6:44214800-44220200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
32	chr6:44215000-44220000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
33	chr6:44215400-44216600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr6:44215400-44216600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:44215400-44216600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
36	chr6:44215400-44216800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
37	chr6:44215400-44217800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:44215400-44218400	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr6:44215400-44218600	Transcr. at gene 5' and 3'	A549	lung
40	chr6:44215600-44216400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:44215600-44216600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:44215600-44216600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr6:44215600-44216600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
44	chr6:44215600-44216600	Active TSS	Brain Germinal Matrix	brain
45	chr6:44215600-44216600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr6:44215600-44217000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:44215600-44217000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
48	chr6:44215600-44217200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
49	chr6:44215600-44217200	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
50	chr6:44215600-44217400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell

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