Variant report

Variant	rs548247371
Chromosome Location	chr1:151784468-151784469
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151512189..151513812-chr1:151782717..151784930,2	MCF-7	breast:
2	chr1:151771040..151773951-chr1:151782694..151784484,3	K562	blood:
3	chr1:151779253..151781376-chr1:151783822..151786859,3	MCF-7	breast:
4	chr1:151782043..151784964-chr1:151791094..151793186,2	K562	blood:

Variant related genes	Relation type
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010398	chr1:151761649-151790940	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr1:151764200-151787000	Weak transcription	Right Ventricle	heart
2	chr1:151764200-151792800	Weak transcription	Lung	lung
3	chr1:151764600-151787600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:151770800-151787200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:151773200-151784800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:151773400-151784800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:151773400-151785000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:151774600-151787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:151776600-151787200	Weak transcription	Spleen	Spleen
10	chr1:151778400-151786000	Strong transcription	Thymus	Thymus
11	chr1:151778400-151792800	Weak transcription	Left Ventricle	heart
12	chr1:151778600-151792000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:151778600-151802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:151778800-151789200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:151779000-151787000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:151780000-151793400	Weak transcription	Stomach Mucosa	stomach
17	chr1:151780200-151785400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:151780200-151786800	Weak transcription	Gastric	stomach
19	chr1:151780800-151785400	Weak transcription	Dnd41	blood
20	chr1:151780800-151786600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:151781000-151786000	Strong transcription	Fetal Thymus	thymus
22	chr1:151781800-151787600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:151781800-151788400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:151782000-151791000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:151782200-151789000	Weak transcription	Esophagus	oesophagus
26	chr1:151782600-151787000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:151782800-151786000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:151782800-151790400	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:151783400-151784600	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:151783600-151790800	Strong transcription	Pancreas	Pancrea
31	chr1:151783600-151791400	Weak transcription	Hela-S3	cervix
32	chr1:151783800-151788000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:151783800-151792000	Weak transcription	Psoas Muscle	Psoas
34	chr1:151784000-151784600	Enhancers	HSMMtube	muscle
35	chr1:151784200-151787400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:151784200-151789400	Strong transcription	Liver	Liver
37	chr1:151784400-151787000	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:151784400-151789800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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