Variant report

Variant	rs34254649
Chromosome Location	chr19:40419939-40419940
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	chr19:40414305..40416214-chr19:40418924..40420802,2	K562	blood:
2	chr19:40419026..40420915-chr19:40421238..40424178,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7256902	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv2483	chr19:40340641-40435505	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv482218	chr19:40353963-40440533	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1066339	chr19:40357018-40427903	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40404600-40421000	Weak transcription	Fetal Intestine Small	intestine
2	chr19:40404800-40429600	Weak transcription	Primary B cells from cord blood	blood
3	chr19:40412200-40427600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:40414400-40433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:40416000-40423200	Weak transcription	Stomach Mucosa	stomach
6	chr19:40416800-40421600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:40418200-40435800	Weak transcription	Brain Anterior Caudate	brain
8	chr19:40418400-40421000	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:40418600-40421600	Weak transcription	Right Atrium	heart
10	chr19:40418800-40421000	Strong transcription	Primary T cells from cord blood	blood
11	chr19:40418800-40430800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:40419000-40420000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr19:40419600-40420000	Enhancers	Fetal Intestine Large	intestine
14	chr19:40419600-40420000	Enhancers	Gastric	stomach
15	chr19:40419600-40420000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
16	chr19:40419600-40420000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
17	chr19:40419600-40420200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:40419600-40420200	Enhancers	Duodenum Mucosa	Duodenum
19	chr19:40419600-40420400	Enhancers	Pancreas	Pancrea
20	chr19:40419600-40420800	Enhancers	Colonic Mucosa	Colon
21	chr19:40419800-40420000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:40419800-40420000	Enhancers	Small Intestine	intestine
23	chr19:40419800-40420200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr19:40419800-40420400	Enhancers	A549	lung
25	chr19:40419800-40420400	Enhancers	HepG2	liver

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