Variant report

Variant	rs148028284
Chromosome Location	chr7:6309132-6309133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6306666..6309217-chr7:6522302..6523810,2	K562	blood:
2	chr7:6293639..6295897-chr7:6307498..6309548,2	MCF-7	breast:
3	chr7:6304552..6306411-chr7:6307990..6310945,2	MCF-7	breast:
4	chr7:6307491..6309134-chr7:6317243..6319734,2	K562	blood:
5	chr7:6307201..6310228-chr7:6310974..6314712,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136240	Chromatin interaction
ENSG00000008256	Chromatin interaction
ENSG00000269781	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv538715	chr7:6308902-6359025	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6288200-6310400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:6299000-6310400	Weak transcription	Primary B cells from cord blood	blood
3	chr7:6299200-6310600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:6300200-6310200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:6300400-6310400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:6300600-6310200	Weak transcription	Fetal Kidney	kidney
7	chr7:6300600-6310400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:6301200-6310400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:6301200-6310400	Weak transcription	Colonic Mucosa	Colon
10	chr7:6302000-6310200	Weak transcription	NH-A	brain
11	chr7:6302400-6310400	Weak transcription	Fetal Stomach	stomach
12	chr7:6302600-6310200	Weak transcription	Osteobl	bone
13	chr7:6304800-6310400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:6305800-6309200	Enhancers	Psoas Muscle	Psoas
15	chr7:6306200-6309400	Enhancers	Placenta	Placenta
16	chr7:6306800-6310400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:6306800-6310400	Enhancers	Fetal Intestine Small	intestine
18	chr7:6306800-6310600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:6307000-6310400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:6308000-6310400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:6308200-6309200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:6308200-6309800	Enhancers	Stomach Mucosa	stomach
23	chr7:6308200-6310200	Enhancers	K562	blood
24	chr7:6308200-6310400	Enhancers	Fetal Heart	heart
25	chr7:6308200-6310400	Enhancers	A549	lung
26	chr7:6308400-6309200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:6308400-6309400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:6308400-6309400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr7:6308400-6309400	Enhancers	HMEC	breast
30	chr7:6308400-6309600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:6308400-6309800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr7:6308400-6310400	Enhancers	Fetal Intestine Large	intestine
33	chr7:6308400-6310400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr7:6308400-6310600	Active TSS	GM12878-XiMat	blood
35	chr7:6308600-6309200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:6308600-6309200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:6308600-6309200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:6308600-6309200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:6308600-6309200	Enhancers	Brain Cingulate Gyrus	brain
40	chr7:6308600-6309400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:6308600-6309400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:6308600-6309400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:6308600-6309400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:6308600-6309400	Enhancers	Aorta	Aorta
45	chr7:6308600-6309400	Enhancers	Liver	Liver
46	chr7:6308600-6309400	Enhancers	Brain Hippocampus Middle	brain
47	chr7:6308600-6309400	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr7:6308600-6309400	Enhancers	Fetal Muscle Leg	muscle
49	chr7:6308600-6309400	Enhancers	Gastric	stomach
50	chr7:6308600-6309400	Enhancers	Lung	lung

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