Variant report

Variant	rs6818444
Chromosome Location	chr4:88341675-88341676
allele	A/G
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	TCF7L2	chr4:88340438-88341704	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88340563..88342774-chr4:88344260..88346848,4	MCF-7	breast:
2	chr4:88340622..88342394-chr4:88382444..88384320,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSD17B11-2	chr4:88341428-88343734	NONHSAT097311

Variant related genes	Relation type
NUDT9	TF binding region
ENSG00000272856	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11936273	1.00[GIH][hapmap]
rs11936366	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11936545	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11936844	0.87[YRI][hapmap]
rs56102037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56401941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59716710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60052062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826257	1.00[GIH][hapmap]
rs6844206	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839721	0.96[AFR][1000 genomes]
rs73839773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88329600-88342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:88334600-88342800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:88339400-88343000	Enhancers	Fetal Intestine Large	intestine
4	chr4:88340000-88343000	Enhancers	Fetal Intestine Small	intestine
5	chr4:88340000-88343000	Enhancers	Pancreas	Pancrea
6	chr4:88340400-88342000	Enhancers	Stomach Mucosa	stomach
7	chr4:88340400-88343000	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:88340600-88341800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr4:88340600-88342600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:88340600-88342600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:88340800-88342200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:88340800-88342400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:88340800-88342400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:88340800-88342600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:88340800-88342600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:88340800-88342600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:88340800-88342600	Enhancers	Fetal Kidney	kidney
18	chr4:88340800-88342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:88340800-88343000	Weak transcription	Colonic Mucosa	Colon
20	chr4:88340800-88343200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:88340800-88343200	Weak transcription	Gastric	stomach
22	chr4:88341000-88343000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:88341200-88342400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:88341200-88342400	Flanking Active TSS	HepG2	liver
25	chr4:88341200-88342800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:88341200-88343000	Weak transcription	Right Atrium	heart
27	chr4:88341400-88341800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:88341400-88341800	Enhancers	Small Intestine	intestine
29	chr4:88341400-88342200	Enhancers	Liver	Liver
30	chr4:88341400-88342200	Enhancers	A549	lung
31	chr4:88341400-88342400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:88341400-88342800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:88341400-88343000	Weak transcription	HUVEC	blood vessel
34	chr4:88341400-88343400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:88341600-88342600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:88341600-88342600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:88341600-88342800	Weak transcription	Psoas Muscle	Psoas
38	chr4:88341600-88343000	Weak transcription	NH-A	brain

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