Variant report

Variant	rs541500441
Chromosome Location	chr7:66110616-66110617
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66108414..66111030-chr7:66116734..66119540,3	K562	blood:
2	chr7:66102739..66106974-chr7:66106983..66113666,6	K562	blood:
3	chr7:66108448..66114561-chr7:66117849..66121082,8	MCF-7	breast:
4	chr7:66109569..66111669-chr7:66397227..66398800,2	K562	blood:

Variant related genes	Relation type
ENSG00000226824	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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	esv3366594	chr7:66110517-66110889	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66095000-66115200	Weak transcription	HMEC	breast
2	chr7:66095200-66118400	Weak transcription	Fetal Heart	heart
3	chr7:66095200-66118400	Weak transcription	HUVEC	blood vessel
4	chr7:66096000-66113800	Strong transcription	Fetal Stomach	stomach
5	chr7:66097000-66113400	Strong transcription	Fetal Brain Female	brain
6	chr7:66097800-66118200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:66098000-66111000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:66098000-66111400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:66098000-66112800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr7:66098000-66113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:66098000-66113400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:66098200-66111200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:66098200-66112400	Strong transcription	Fetal Muscle Leg	muscle
14	chr7:66098400-66112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:66098400-66113200	Strong transcription	Spleen	Spleen
16	chr7:66098800-66111200	Strong transcription	Primary T cells from cord blood	blood
17	chr7:66099400-66111200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:66099800-66113400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:66100000-66111200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:66101200-66111200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr7:66101400-66113400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr7:66101800-66113400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:66102200-66110800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:66102200-66112400	Strong transcription	Lung	lung
25	chr7:66102200-66113600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:66102200-66113800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:66102400-66112400	Strong transcription	Placenta	Placenta
28	chr7:66102400-66113400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:66102400-66113400	Strong transcription	Brain Germinal Matrix	brain
30	chr7:66102600-66112400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:66102600-66112400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:66102800-66111400	Strong transcription	NHDF-Ad	bronchial
33	chr7:66102800-66113200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:66102800-66113600	Strong transcription	Thymus	Thymus
35	chr7:66103000-66112600	Strong transcription	Osteobl	bone
36	chr7:66103200-66111200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:66103200-66112400	Strong transcription	Aorta	Aorta
38	chr7:66104000-66117600	Weak transcription	Hela-S3	cervix
39	chr7:66104200-66115000	Weak transcription	NHEK	skin
40	chr7:66104600-66118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:66104800-66118200	Weak transcription	Pancreas	Pancrea
42	chr7:66104800-66118400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:66105000-66118600	Weak transcription	Esophagus	oesophagus
44	chr7:66105000-66119000	Weak transcription	Gastric	stomach
45	chr7:66105200-66118800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:66105600-66118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:66105800-66113400	Strong transcription	HSMM	muscle
48	chr7:66105800-66118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:66105800-66118400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:66106000-66118200	Weak transcription	Colon Smooth Muscle	Colon

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