Variant report

Variant	rs6148594
Chromosome Location	chr4:100023377-100023378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100008642..100013321-chr4:100020625..100023682,5	MCF-7	breast:
2	chr4:100008526..100011791-chr4:100020409..100023760,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246090	Chromatin interaction
ENSG00000197894	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1849572	chr4:100007243-100024396	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1843227	chr4:100021476-100024396	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2569136	chr4:100022259-100023911	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv5687	chr4:100022765-100023640	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1947060	chr4:100022836-100023569	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3390702	chr4:100022918-100023459	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3405623	chr4:100022945-100023450	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3528134	chr4:100022950-100023447	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3528135	chr4:100022965-100023410	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3465807	chr4:100022971-100023423	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3437448	chr4:100022972-100023412	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3465806	chr4:100022985-100023392	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3528137	chr4:100022991-100023434	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3528136	chr4:100022994-100023394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv4382	chr4:100023002-100023488	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3465809	chr4:100023029-100023382	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3465810	chr4:100023030-100023382	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv3528133	chr4:100023041-100023377	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv289916	chr4:100023043-100023377	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv3465811	chr4:100023043-100023386	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv3528138	chr4:100023045-100023382	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv1010884	chr4:100023049-100023383	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv292906	chr4:100023051-100023385	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100011400-100025800	Weak transcription	Esophagus	oesophagus
2	chr4:100011600-100025600	Weak transcription	Primary T cells from cord blood	blood
3	chr4:100012800-100063800	Weak transcription	Aorta	Aorta
4	chr4:100014400-100024000	Weak transcription	HMEC	breast
5	chr4:100020400-100024400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:100020600-100034800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:100020800-100032800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:100020800-100038600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:100021000-100023600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:100021000-100032200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:100021000-100041200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:100021400-100025200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:100021600-100024400	Weak transcription	Small Intestine	intestine
14	chr4:100022200-100024000	Weak transcription	Osteobl	bone
15	chr4:100022200-100024200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:100022200-100024600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:100022200-100025400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:100022600-100023600	Weak transcription	Placenta	Placenta
19	chr4:100022600-100024800	Weak transcription	Adipose Nuclei	Adipose
20	chr4:100022600-100025000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:100022800-100023800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:100022800-100024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:100022800-100024000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:100023000-100055600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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