Variant report

Variant	rs540665649
Chromosome Location	chr6:44216757-44216758
allele	-/GA
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44044085..44046991-chr6:44216069..44218144,2	K562	blood:
2	chr6:44138460..44140248-chr6:44216411..44219191,2	MCF-7	breast:
3	chr6:43593505..43599096-chr6:44213646..44217999,9	K562	blood:
4	chr6:44040622..44046991-chr6:44213898..44218144,6	K562	blood:
5	chr6:43740852..43742547-chr6:44215186..44217318,2	K562	blood:
6	chr6:43596586..43599214-chr6:44212975..44217729,5	K562	blood:
7	chr6:44147611..44150566-chr6:44216082..44217959,2	K562	blood:
8	chr6:28864761..28865369-chr6:44216136..44216861,2	Hela-S3	cervix:
9	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
10	chr6:44122736..44127198-chr6:44213713..44218106,8	K562	blood:
11	chr6:44215194..44217832-chr6:44265456..44268236,2	K562	blood:
12	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
13	chr6:44133200..44145960-chr6:44211718..44220192,28	K562	blood:
14	chr6:44216338..44218124-chr6:44278260..44280536,2	MCF-7	breast:
15	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
16	chr6:44187521..44192952-chr6:44212221..44217106,13	MCF-7	breast:
17	chr6:44213880..44217687-chr6:44354177..44357164,5	K562	blood:
18	chr6:44216083..44217678-chr6:44271012..44273836,2	MCF-7	breast:
19	chr6:44214289..44217035-chr6:44262196..44266038,3	K562	blood:
20	chr6:43637159..43639334-chr6:44216185..44218215,2	K562	blood:
21	chr6:44213575..44218708-chr6:44278177..44283526,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137225	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000231881	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000096401	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000112715	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	nsv969396	chr6:44216621-44221180	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	13 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	chr6:44213600-44217000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:44214000-44216800	Active TSS	Pancreas	Pancrea
3	chr6:44214000-44217000	Active TSS	HSMMtube	muscle
4	chr6:44214200-44217800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:44214800-44220200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
6	chr6:44215000-44220000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr6:44215400-44216800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
8	chr6:44215400-44217800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:44215400-44218400	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr6:44215400-44218600	Transcr. at gene 5' and 3'	A549	lung
11	chr6:44215600-44217000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:44215600-44217000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
13	chr6:44215600-44217200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
14	chr6:44215600-44217200	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
15	chr6:44215600-44217400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
16	chr6:44215600-44217400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
17	chr6:44215600-44217600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
18	chr6:44215600-44217600	Transcr. at gene 5' and 3'	NHEK	skin
19	chr6:44215600-44217800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
20	chr6:44215600-44218400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
21	chr6:44215800-44216800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:44215800-44216800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:44215800-44217000	Active TSS	Right Atrium	heart
24	chr6:44215800-44217200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:44215800-44217200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
26	chr6:44215800-44217200	Transcr. at gene 5' and 3'	HSMM	muscle
27	chr6:44215800-44217400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
28	chr6:44215800-44217400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:44215800-44217600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
30	chr6:44215800-44217600	Transcr. at gene 5' and 3'	K562	blood
31	chr6:44215800-44217800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:44215800-44217800	Transcr. at gene 5' and 3'	HMEC	breast
33	chr6:44215800-44218400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
34	chr6:44215800-44218800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:44215800-44218800	Transcr. at gene 5' and 3'	Hela-S3	cervix
36	chr6:44215800-44221400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
37	chr6:44216000-44216800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
38	chr6:44216000-44216800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
39	chr6:44216000-44216800	Weak transcription	Gastric	stomach
40	chr6:44216000-44217000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
41	chr6:44216000-44217200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
42	chr6:44216000-44217400	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
43	chr6:44216000-44217600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:44216000-44217600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
45	chr6:44216000-44217600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
46	chr6:44216000-44217600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
47	chr6:44216000-44217600	Transcr. at gene 5' and 3'	NH-A	brain
48	chr6:44216200-44216800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:44216200-44216800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
50	chr6:44216200-44217200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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