Variant report

Variant	rs574999660
Chromosome Location	chr7:104763767-104763768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104763430..104769155-chr7:104770019..104777635,10	K562	blood:
2	chr7:104758883..104761697-chr7:104762502..104764624,2	MCF-7	breast:
3	chr7:104763670..104767033-chr7:104769118..104772406,3	MCF-7	breast:
4	chr7:104651567..104655647-chr7:104761359..104764221,4	K562	blood:
5	chr7:104752347..104754991-chr7:104761307..104763859,2	K562	blood:

Variant related genes	Relation type
ENSG00000005483	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104740400-104787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:104750200-104777000	Weak transcription	Right Atrium	heart
4	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
5	chr7:104753600-104768000	Weak transcription	Psoas Muscle	Psoas
6	chr7:104753800-104763800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:104753800-104764400	Weak transcription	Esophagus	oesophagus
8	chr7:104753800-104764400	Weak transcription	Fetal Stomach	stomach
9	chr7:104753800-104764400	Weak transcription	Pancreas	Pancrea
10	chr7:104753800-104764400	Weak transcription	Spleen	Spleen
11	chr7:104753800-104764600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:104753800-104765800	Weak transcription	Right Ventricle	heart
13	chr7:104753800-104766200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:104753800-104766200	Weak transcription	Gastric	stomach
15	chr7:104753800-104768400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:104753800-104772200	Weak transcription	Aorta	Aorta
17	chr7:104753800-104772800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:104753800-104776600	Weak transcription	Stomach Mucosa	stomach
19	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
20	chr7:104754400-104776800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
22	chr7:104754800-104764400	Weak transcription	Brain Germinal Matrix	brain
23	chr7:104754800-104765800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:104755000-104772600	Weak transcription	Fetal Brain Female	brain
25	chr7:104755200-104767000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:104755200-104782000	Weak transcription	Colonic Mucosa	Colon
27	chr7:104755600-104776600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:104755600-104778200	Weak transcription	Hela-S3	cervix
29	chr7:104755600-104790400	Weak transcription	NH-A	brain
30	chr7:104756000-104764200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:104756000-104765600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:104756200-104765800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:104756400-104779400	Weak transcription	A549	lung
34	chr7:104756400-104806600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:104756800-104764000	Weak transcription	K562	blood
36	chr7:104757400-104764400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:104757800-104763800	Weak transcription	Adipose Nuclei	Adipose
38	chr7:104757800-104764400	Weak transcription	HSMM	muscle
39	chr7:104757800-104765600	Weak transcription	HUVEC	blood vessel
40	chr7:104758400-104763800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:104758400-104764200	Weak transcription	NHDF-Ad	bronchial
42	chr7:104758400-104764400	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:104758400-104764400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:104758600-104765800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:104758600-104765800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:104758600-104765800	Weak transcription	Placenta	Placenta
47	chr7:104758800-104764000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:104758800-104765600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:104758800-104765800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:104758800-104765800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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