Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48184426..48187348-chr4:48194025..48197135,3	K562	blood:
2	chr4:48191196..48193426-chr4:48194546..48197180,3	K562	blood:

rSNPs within LD-proxies of this variant (count:3)

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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48185800-48197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:48190400-48197400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
4	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
5	chr4:48191400-48197400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:48194800-48197400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr4:48194800-48198400	Enhancers	Fetal Thymus	thymus
8	chr4:48194800-48198800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:48195000-48199000	Enhancers	K562	blood
10	chr4:48195000-48208200	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:48195200-48196400	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:48195200-48199400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:48195400-48198600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:48195400-48198600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:48195800-48197000	Flanking Active TSS	GM12878-XiMat	blood
16	chr4:48195800-48197200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:48195800-48198400	Enhancers	Primary hematopoietic stem cells	blood
18	chr4:48196000-48196200	Enhancers	Lung	lung
19	chr4:48196000-48196200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr4:48196000-48196800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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