Variant report

Variant	rs552192570
Chromosome Location	chr7:104699683-104699684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr7:104699045-104700048	K562	blood:	n/a	n/a
2	POLR2A	chr7:104699658-104699761	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104693711..104695531-chr7:104698360..104700318,2	MCF-7	breast:
2	chr7:104658414..104660571-chr7:104698662..104700475,2	K562	blood:
3	chr7:104649592..104657753-chr7:104694428..104703365,16	MCF-7	breast:
4	chr7:104652104..104656031-chr7:104693551..104701213,11	MCF-7	breast:
5	chr7:104650546..104656206-chr7:104695535..104706992,23	K562	blood:
6	chr7:104647926..104656528-chr7:104691112..104706949,31	K562	blood:

No data

Variant related genes	Relation type
KMT2E	TF binding region
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1801863	chr7:104699637-104713419	Genic enhancers Enhancers Strong transcription Weak transcription	TF binding region 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	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:104678000-104812200	Strong transcription	Dnd41	blood
4	chr7:104680600-104727000	Strong transcription	Fetal Thymus	thymus
5	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:104681400-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:104682800-104700800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:104685400-104708000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:104685600-104703800	Weak transcription	Fetal Brain Male	brain
11	chr7:104685600-104704400	Weak transcription	Aorta	Aorta
12	chr7:104685600-104708200	Weak transcription	Esophagus	oesophagus
13	chr7:104685600-104709000	Weak transcription	Lung	lung
14	chr7:104685600-104720400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr7:104687600-104700400	Weak transcription	NHEK	skin
17	chr7:104687800-104721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:104688000-104703600	Weak transcription	A549	lung
19	chr7:104688200-104707600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:104688800-104701200	Weak transcription	Ovary	ovary
21	chr7:104688800-104701200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:104688800-104707400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:104689400-104708200	Weak transcription	NHLF	lung
24	chr7:104689600-104700600	Weak transcription	HMEC	breast
25	chr7:104689600-104705200	Weak transcription	Brain Germinal Matrix	brain
26	chr7:104689800-104700800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:104689800-104701200	Weak transcription	HSMMtube	muscle
28	chr7:104689800-104703600	Weak transcription	Colonic Mucosa	Colon
29	chr7:104689800-104708200	Weak transcription	Pancreas	Pancrea
30	chr7:104690000-104703800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:104691000-104703600	Weak transcription	Hela-S3	cervix
32	chr7:104691400-104703800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:104691400-104703800	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:104692200-104703800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:104692600-104700000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
36	chr7:104692800-104702400	Weak transcription	NH-A	brain
37	chr7:104692800-104703800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:104694000-104699800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:104694000-104700000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr7:104694000-104711200	Strong transcription	Primary B cells from cord blood	blood
41	chr7:104694400-104708200	Weak transcription	Gastric	stomach
42	chr7:104694600-104702400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:104694600-104703600	Weak transcription	Psoas Muscle	Psoas
44	chr7:104694600-104704400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:104694600-104704400	Weak transcription	Small Intestine	intestine
46	chr7:104694600-104708200	Weak transcription	Right Atrium	heart
47	chr7:104694600-104708200	Weak transcription	Spleen	Spleen
48	chr7:104694800-104700600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:104695200-104708800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:104695400-104699800	Enhancers	Brain Angular Gyrus	brain

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