Variant report

Variant	rs38319
Chromosome Location	chr7:70053106-70053107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70048823..70050343-chr7:70052305..70054085,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17492269	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs38303	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs38304	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38315	0.83[ASN][1000 genomes]
rs38316	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38317	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38318	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs38321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs38322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs38323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs38324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs38326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024524	chr7:70031241-70138924	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv522876	chr7:70050442-70071979	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs38319	WBSCR17	cis	parietal	SCAN
rs38319	CLDN4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70036800-70060800	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:70038600-70059600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:70039800-70060600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:70045400-70060800	Weak transcription	Gastric	stomach
5	chr7:70047800-70053800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:70048400-70060200	Enhancers	Liver	Liver
7	chr7:70048600-70054200	Weak transcription	Ovary	ovary
8	chr7:70050000-70053200	Weak transcription	Small Intestine	intestine
9	chr7:70050600-70053200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:70050600-70053200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:70050600-70055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:70051400-70053400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:70051400-70054400	Enhancers	Fetal Brain Male	brain
14	chr7:70051400-70055000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:70051600-70056600	Enhancers	Fetal Intestine Small	intestine
16	chr7:70051800-70053600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:70051800-70053800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:70051800-70057000	Enhancers	Fetal Intestine Large	intestine
19	chr7:70052000-70054800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:70052200-70053200	Enhancers	HepG2	liver
21	chr7:70052200-70053400	Enhancers	Stomach Mucosa	stomach
22	chr7:70052200-70053600	Enhancers	Duodenum Mucosa	Duodenum
23	chr7:70052200-70053800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:70052200-70055800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:70052400-70054000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:70052400-70054800	Weak transcription	Fetal Thymus	thymus
27	chr7:70052600-70055800	Enhancers	Fetal Brain Female	brain
28	chr7:70052800-70054000	Enhancers	Fetal Kidney	kidney
29	chr7:70052800-70054200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:70052800-70054200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:70052800-70055200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:70053000-70053200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr7:70053000-70053400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:70053000-70053400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:70053000-70053600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:70053000-70054200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:70053000-70054200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:70053000-70054400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:70053000-70055000	Enhancers	HUES6 Cell Line	embryonic stem cell

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