Variant report

Variant	rs10141190
Chromosome Location	chr14:31730855-31730856
allele	C/T
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	EP300	chr14:31730029-31732034	HepG2	liver:	n/a	chr14:31730478-31730492 chr14:31730585-31730594 chr14:31731594-31731603 chr14:31730213-31730227
2	CREB1	chr14:31730740-31731879	HepG2	liver:	n/a	n/a
3	RAD21	chr14:31730855-31731680	HepG2	liver:	n/a	chr14:31731056-31731065 chr14:31731301-31731311
4	MYBL2	chr14:31730056-31731936	HepG2	liver:	n/a	n/a
5	MBD4	chr14:31730483-31732362	HepG2	liver:	n/a	n/a
6	TEAD4	chr14:31729786-31732305	HepG2	liver:	n/a	n/a
7	HDAC2	chr14:31730840-31731662	HepG2	liver:	n/a	n/a
8	EP300	chr14:31730781-31731123	GM12878	blood:	n/a	n/a
9	CREB1	chr14:31730618-31731784	HepG2	liver:	n/a	n/a
10	HNF4G	chr14:31730756-31731744	HepG2	liver:	n/a	chr14:31731332-31731345 chr14:31731288-31731303 chr14:31731248-31731260 chr14:31731332-31731345 chr14:31731330-31731348 chr14:31731330-31731345 chr14:31731333-31731345
11	MAX	chr14:31730792-31732105	HepG2	liver:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
12	MYBL2	chr14:31730006-31732211	HepG2	liver:	n/a	n/a
13	NFIC	chr14:31730453-31732279	HepG2	liver:	n/a	chr14:31731386-31731403
14	HDAC2	chr14:31730808-31731645	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31675532..31678117-chr14:31730710..31734144,6	MCF-7	breast:
2	chr14:31724753..31726781-chr14:31730030..31732709,2	MCF-7	breast:
3	chr14:31727752..31730526-chr14:31730596..31732491,2	K562	blood:
4	chr14:31721356..31723152-chr14:31729738..31731709,2	MCF-7	breast:
5	chr14:31673985..31677853-chr14:31730006..31735257,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199291	TF binding region
ENSG00000199291	Chromatin interaction
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10136337	1.00[AMR][1000 genomes]
rs10141820	1.00[AMR][1000 genomes]
rs10147374	0.92[AFR][1000 genomes]
rs10150426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150443	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097773	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28413001	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28508039	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28715098	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28789531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28867507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41487450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57371146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253152	0.92[AFR][1000 genomes]
rs73265488	1.00[AMR][1000 genomes]
rs73267405	1.00[AMR][1000 genomes]

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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31721200-31731000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr14:31721200-31731000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:31726400-31736000	Enhancers	Liver	Liver
4	chr14:31727200-31735000	Weak transcription	Gastric	stomach
5	chr14:31728000-31731000	Enhancers	HepG2	liver
6	chr14:31728200-31731000	Weak transcription	Fetal Intestine Large	intestine
7	chr14:31728200-31731600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:31729400-31736200	Enhancers	Stomach Mucosa	stomach
9	chr14:31730000-31733600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:31730200-31731400	Enhancers	Small Intestine	intestine
11	chr14:31730200-31731600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:31730200-31732200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:31730200-31733000	Enhancers	NHDF-Ad	bronchial
14	chr14:31730400-31731400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:31730400-31733400	Enhancers	Placenta	Placenta
16	chr14:31730400-31735800	Enhancers	NHLF	lung
17	chr14:31730600-31731200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:31730600-31731200	Enhancers	GM12878-XiMat	blood
19	chr14:31730600-31732000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:31730600-31732200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:31730600-31732400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:31730600-31733200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:31730600-31733800	Enhancers	Fetal Lung	lung
24	chr14:31730600-31734000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:31730600-31734200	Enhancers	Hela-S3	cervix
26	chr14:31730800-31731400	Enhancers	Pancreas	Pancrea
27	chr14:31730800-31731800	Enhancers	Stomach Smooth Muscle	stomach
28	chr14:31730800-31732000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:31730800-31732200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:31730800-31732200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:31730800-31732200	Enhancers	Esophagus	oesophagus
32	chr14:31730800-31732400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr14:31730800-31732400	Enhancers	Fetal Intestine Small	intestine
34	chr14:31730800-31733000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:31730800-31733200	Enhancers	Right Atrium	heart
36	chr14:31730800-31733400	Enhancers	Adipose Nuclei	Adipose
37	chr14:31730800-31733400	Enhancers	Fetal Muscle Leg	muscle
38	chr14:31730800-31733400	Enhancers	Fetal Stomach	stomach
39	chr14:31730800-31734000	Enhancers	Placenta Amnion	Placenta Amnion

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