Variant report

Variant	rs533616001
Chromosome Location	chr7:104727812-104727813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104651553..104653771-chr7:104726908..104729258,2	K562	blood:
2	chr7:104622725..104624630-chr7:104727486..104729559,2	K562	blood:
3	chr7:104717490..104719449-chr7:104726208..104728832,2	K562	blood:
4	chr7:104622359..104624225-chr7:104726075..104728986,2	K562	blood:

Variant related genes	Relation type
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	esv3377784	chr7:104726466-104728889	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3437504	chr7:104726816-104728364	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	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	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:104699800-104738400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr7:104702200-104738200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:104702200-104747800	Weak transcription	Stomach Mucosa	stomach
10	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
12	chr7:104703800-104735400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:104704000-104745200	Weak transcription	Psoas Muscle	Psoas
14	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:104707000-104739200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:104707800-104730000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:104709600-104744400	Weak transcription	Right Ventricle	heart
18	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:104712600-104736600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:104713600-104735600	Strong transcription	Adipose Nuclei	Adipose
21	chr7:104715400-104731600	Weak transcription	Brain Substantia Nigra	brain
22	chr7:104718200-104750600	Weak transcription	Fetal Brain Male	brain
23	chr7:104718800-104728200	Strong transcription	Fetal Intestine Small	intestine
24	chr7:104718800-104728400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:104720600-104746200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:104720800-104739200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:104721400-104728400	Weak transcription	Hela-S3	cervix
28	chr7:104721400-104732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:104721400-104744600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:104721600-104728800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:104721600-104730600	Weak transcription	NHLF	lung
32	chr7:104721600-104732400	Weak transcription	Pancreas	Pancrea
33	chr7:104721600-104744800	Weak transcription	Spleen	Spleen
34	chr7:104721600-104749400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:104721800-104733400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:104723000-104729800	Strong transcription	Thymus	Thymus
38	chr7:104723200-104737000	Weak transcription	Fetal Heart	heart
39	chr7:104723400-104728400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:104723600-104729200	Weak transcription	HUVEC	blood vessel
41	chr7:104724000-104732400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:104724000-104743200	Weak transcription	Brain Angular Gyrus	brain
43	chr7:104724200-104728600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:104724200-104744400	Weak transcription	Aorta	Aorta
45	chr7:104724200-104748000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:104724600-104729200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:104724600-104734800	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:104724800-104728600	Weak transcription	HepG2	liver
49	chr7:104724800-104729000	Weak transcription	A549	lung
50	chr7:104724800-104732800	Weak transcription	Colon Smooth Muscle	Colon

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