Variant report

Variant	rs153709
Chromosome Location	chr5:16904555-16904556
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:16903776-16907066	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr5:16903692-16904644	A549	lung:	n/a	n/a
3	POLR2A	chr5:16904500-16904559	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16894491..16896403-chr5:16903844..16905936,2	MCF-7	breast:
2	chr5:16903174..16906084-chr5:16912041..16914007,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243538	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13176126	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription 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	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv968877	chr5:16901612-16905258	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs153709	MARCH11	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16896000-16912400	Weak transcription	Esophagus	oesophagus
2	chr5:16898200-16906200	Weak transcription	Psoas Muscle	Psoas
3	chr5:16898200-16912600	Weak transcription	NH-A	brain
4	chr5:16898400-16904600	Weak transcription	Fetal Intestine Small	intestine
5	chr5:16899400-16907000	Enhancers	Pancreas	Pancrea
6	chr5:16899800-16905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:16899800-16910000	Weak transcription	HUVEC	blood vessel
8	chr5:16899800-16910800	Weak transcription	HMEC	breast
9	chr5:16900400-16905400	Enhancers	Fetal Muscle Leg	muscle
10	chr5:16901200-16904800	Enhancers	Fetal Muscle Trunk	muscle
11	chr5:16901200-16906400	Enhancers	Gastric	stomach
12	chr5:16901200-16907000	Enhancers	Lung	lung
13	chr5:16901400-16906400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:16901400-16907600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:16901600-16905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:16901600-16906000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:16901600-16907600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:16901600-16909400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:16902000-16905200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:16902000-16905400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:16902000-16905400	Weak transcription	Spleen	Spleen
22	chr5:16902000-16906200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:16902000-16906200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:16902000-16912800	Weak transcription	Fetal Intestine Large	intestine
25	chr5:16902200-16906600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:16902200-16913800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:16902200-16919000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:16902200-16930000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:16902400-16904600	Enhancers	HSMMtube	muscle
30	chr5:16902400-16907000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:16902600-16904600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:16902800-16904600	Enhancers	HSMM	muscle
33	chr5:16902800-16906600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:16903000-16904600	Enhancers	Fetal Lung	lung
35	chr5:16903000-16904800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:16903000-16904800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr5:16903000-16905200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:16903000-16907000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:16903200-16905200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:16903400-16907000	Enhancers	Placenta	Placenta
41	chr5:16903800-16904600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:16903800-16904600	Flanking Active TSS	A549	lung
43	chr5:16903800-16905800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:16904200-16904600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:16904200-16905200	Weak transcription	Ovary	ovary
46	chr5:16904200-16906000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:16904200-16906000	Weak transcription	Hela-S3	cervix
48	chr5:16904400-16905200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:16904400-16905200	Weak transcription	Stomach Mucosa	stomach
50	chr5:16904400-16905400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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