Variant report

Variant	rs548567818
Chromosome Location	chr6:44202332-44202333
allele	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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44193349..44195595-chr6:44198490..44203873,4	MCF-7	breast:
2	chr6:44064173..44065096-chr6:44201605..44202510,3	K562	blood:
3	chr6:44118934..44120172-chr6:44201616..44202538,11	MCF-7	breast:
4	chr6:44188965..44189915-chr6:44201606..44202486,3	MCF-7	breast:
5	chr6:44139881..44141095-chr6:44201450..44203123,17	MCF-7	breast:
6	chr6:44196319..44199893-chr6:44200846..44202701,4	MCF-7	breast:
7	chr6:44137717..44140173-chr6:44201270..44205583,3	MCF-7	breast:
8	chr6:44140559..44141134-chr6:44201407..44202489,4	MCF-7	breast:
9	chr6:44141577..44142131-chr6:44201600..44202532,2	K562	blood:
10	chr6:44066164..44066852-chr6:44201933..44202598,2	MCF-7	breast:
11	chr6:44202199..44204856-chr6:44206389..44207933,2	MCF-7	breast:
12	chr6:44096398..44099100-chr6:44201010..44203822,2	K562	blood:
13	chr6:44140158..44141271-chr6:44201179..44202684,11	K562	blood:
14	chr6:44140799..44143611-chr6:44200264..44202558,3	MCF-7	breast:
15	chr6:44119282..44120002-chr6:44201581..44202498,4	MCF-7	breast:
16	chr6:44184911..44192138-chr6:44201380..44207306,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112759	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv981326	chr6:44201100-44205684	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44191600-44205000	Weak transcription	Small Intestine	intestine
2	chr6:44192200-44204800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:44192400-44205000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:44193200-44204800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:44194800-44202400	Weak transcription	Fetal Kidney	kidney
6	chr6:44195000-44202800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:44195200-44202600	Strong transcription	Dnd41	blood
8	chr6:44195600-44202600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:44195600-44203000	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr6:44199600-44202600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:44199600-44203000	Genic enhancers	Fetal Thymus	thymus
12	chr6:44199800-44205200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr6:44200000-44204800	Enhancers	Liver	Liver
14	chr6:44200200-44203200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:44200400-44202600	Enhancers	Psoas Muscle	Psoas
16	chr6:44200400-44203400	Genic enhancers	Fetal Muscle Leg	muscle
17	chr6:44200400-44204200	Genic enhancers	Fetal Stomach	stomach
18	chr6:44200600-44202600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:44200600-44203400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr6:44200600-44203800	Genic enhancers	HUVEC	blood vessel
21	chr6:44200600-44204200	Enhancers	Brain Hippocampus Middle	brain
22	chr6:44200800-44202600	Genic enhancers	Thymus	Thymus
23	chr6:44200800-44203000	Enhancers	Primary T cells from cord blood	blood
24	chr6:44200800-44203200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:44200800-44203600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:44200800-44203600	Enhancers	Brain Angular Gyrus	brain
27	chr6:44200800-44203600	Enhancers	Brain Anterior Caudate	brain
28	chr6:44200800-44203600	Enhancers	Brain Cingulate Gyrus	brain
29	chr6:44201000-44202800	Enhancers	HSMM	muscle
30	chr6:44201000-44203000	Enhancers	Duodenum Mucosa	Duodenum
31	chr6:44201000-44203200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:44201000-44203600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:44201000-44203600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:44201000-44205000	Enhancers	HMEC	breast
35	chr6:44201200-44202400	Weak transcription	Aorta	Aorta
36	chr6:44201200-44202400	Enhancers	Colon Smooth Muscle	Colon
37	chr6:44201200-44202800	Enhancers	A549	lung
38	chr6:44201200-44203000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:44201200-44203200	Genic enhancers	Fetal Intestine Small	intestine
40	chr6:44201200-44203200	Enhancers	Pancreas	Pancrea
41	chr6:44201200-44203200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:44201200-44203400	Enhancers	Brain Substantia Nigra	brain
43	chr6:44201200-44204200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:44201200-44204800	Weak transcription	GM12878-XiMat	blood
45	chr6:44201200-44205000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:44201400-44202400	Weak transcription	Fetal Brain Female	brain
47	chr6:44201400-44202600	Genic enhancers	HepG2	liver
48	chr6:44201400-44202600	Genic enhancers	NHEK	skin
49	chr6:44201400-44203000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr6:44201400-44203200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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